Database DKC1base
Version 1.02
File dkc1pub.html
Date 16-Jun-2011
Curator Mauno Vihinen
Address Protein Structure and Bioinformatics
Address Lund University, BMC D10, SE-22184 Lund, Sweden
Phone +46 72 526 0022
Fax +46 46 222 9328
Email Mauno Vihinen
URL http://structure.bmc.lu.se/idbase/DKC1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF113.html
Gene DKC1
Disease Hoyeraal-Hreidarsson syndrome
OMIM 300126
GDB 119096
Sequence IDRefSeq:D0028; IDRefSeq:C0028; UniProt:O60832
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID &L56(1); standard; MUTATION;
Accession D0013
Systematic name g.3768_3769delinsTC, c.166_167delinsTC, r.166_167delinsuc,
Systematic name p.Leu56Ser
Description A complex mutation in the exon 3 leading to an amino acid
Description change
Date 20-Jul-2010 (Rel. 1, Created)
Date 20-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18802941
RefAuthors Kurnikova, M., Shagina, I., Khachatryan, L., Schagina, O.,
RefAuthors Maschan, M., Shagin, D.
RefTitle Identification of a novel mutation in DKC1 in dyskeratosis
RefTitle congenita.
RefLoc Pediatr Blood Cancer:135-137 (2009)
Feature dna; 1
Feature /rnalink: 2
Feature /name: complex
Feature /loc: IDRefSeq: D0028: 3768..3769
Feature /change: ct -> tc
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028; GI:33874914; DKC1C: 368..369
Feature /codon: cta -> tca; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 56
Feature /change: L -> S
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Physical findings:
Symptoms Thrombocytopenia;
Symptoms Other: Oral mucosa erosions; Stomatitis;
Symptoms Nail dystrophy; Reticular hyperpigmentation;
Symptoms Oesophageal stricture; Hemorrhagic syndrome;
Age 14
Sex XY
//
ID I38T(1); standard; MUTATION;
Accession D0006
Systematic name g.3715T>C, c.113T>C, r.113u>c, p.Ile38Thr
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 27-Nov-2003 (Rel. 1, Created)
Date 27-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12437656
RefAuthors Cossu, F., Vulliamy, T. J., Marrone, A., Badiali, M., Cao,
RefAuthors A., Dokal, I.
RefTitle A novel DKC1 mutation, severe combined
RefTitle immunodeficiency (T+B-NK- SCID) and bone marrow
RefTitle transplantation in an infant with hoyeraal-hreidarsson
RefTitle syndrome.
RefLoc Br J Haematol 119:765-768 (2002)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3715
Feature /change: t -> c
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 315
Feature /codon: atc -> acc; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 38
Feature /change: I -> T
Diagnosis Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Pneumonia; Chronic diarrhea;
Symptoms Other: recurrent bacterial and Candida infections
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Failure to thrive;
Symptoms Developmental delay; Microcephaly; Cerebellar
Symptoms hypoplasia; Bone marrow hypoplasia;
Symptoms Physical findings:
Symptoms Thrombocytopenia; Nail dystrophy; Mucosal leukoplakia;
Symptoms Other: sparse scalp hair, anaemia, regurgitation,
Symptoms agammaglobulinemia, lymphopenia wit absence of B
Symptoms lymphocytes and NK cells, but normal numbers of T
Symptoms lymphocytes
Age 9/12
Sex XY
Ethnic origin Sardinia
Treatment Bone marrow transplantation: Yes: Date: 1/2001
Treatment Donor: matched sibling
Treatment Outcome: alive and well
//
ID T49M(1a); standard; MUTATION;
Accession D0003
Systematic name g.3748C>T, c.146C>T, r.146c>u, p.Thr49Met
Original code Family B, Case 4
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 26-Nov-2003 (Rel. 1, Created)
Date 26-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583221
RefAuthors Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C.
RefAuthors M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C.,
RefAuthors Poustka, A., Mason, P. J., Dokal, I.
RefTitle Unexplained aplastic anaemia, immunodeficiency, and
RefTitle cerebellar hypoplasia (hoyeraal-hreidarsson syndrome) due
RefTitle to mutations in the dyskeratosis congenita gene, DKC1.
RefLoc Br J Haematol 107:335-339 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3748
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 348
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 49
Feature /change: T -> M
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Chronic diarrhea;
Symptoms Other: enterocolitis requiring a colectomy. Patient
Symptoms died from pulmonary infection aged 32 months
Symptoms Neurologic and developmental defects:
Symptoms Failure to thrive; Microcephaly
Symptoms Physical findings:
Symptoms Other: hypogammaglobulinaemia, lymphopenia
Age 1,5
Sex XY
Relative DKC1base; D0004 cousin
IgA absent
IgG absent
IgM 0.3
//
ID T49M(1b); standard; MUTATION;
Accession D0004
Systematic name g.3748C>T, c.146C>T, r.146c>u, p.Thr49Met
Original code Family B, Case 5
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 26-Nov-2003 (Rel. 1, Created)
Date 26-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583221
RefAuthors Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C.
RefAuthors M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C.,
RefAuthors Poustka, A., Mason, P. J., Dokal, I.
RefTitle Unexplained aplastic anaemia, immunodeficiency, and
RefTitle cerebellar hypoplasia (hoyeraal-hreidarsson syndrome) due
RefTitle to mutations in the dyskeratosis congenita gene, DKC1.
RefLoc Br J Haematol 107:335-339 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3748
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 348
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 49
Feature /change: T -> M
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Pneumonia; Chronic diarrhea; Oral ulcerations; Gastric
Symptoms ulcerations
Symptoms Other: enterocolitis and recurrent gastrointestinal
Symptoms bleeding requiring parenteral nutrition
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Failure to thrive;
Symptoms Developmental delay; Microcephaly; Cerebellar
Symptoms hypoplasia
Symptoms Physical findings:
Symptoms Thrombocytopenia; Nail dystrophy
Symptoms Other: lymphopenia
Age 7/12
Sex XY
Ethnic origin Caucasoid; England
Relative DKC1base; D0003 cousin
IgA low
IgG low
IgM low
Treatment Bone marrow transplantation: Yes
Treatment Donor: MUD
Treatment Outcome
Treatment BMT-related problems: infections, recurrent
Treatment haemorrhagic and thrombotic episodes, delayed marrow
Treatment reconstitution, severe gastrointestinal problems
//
ID T49M(2a); standard; MUTATION;
Accession D0007
Systematic name g.3748C>T, c.146C>T, r.146c>u, p.Thr49Met
Original code Family 1, Patient 1
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 18-May-2004 (Rel. 1, Created)
Date 18-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14648217
RefAuthors Sznajer, Y., Baumann, C., David, A., Journel, H., Lacombe,
RefAuthors D., Perel, Y., Blouin, P., Segura, J. F., Cezard, J. P.,
RefAuthors Peuchmaur, M., Vulliamy, T., Dokal, I., Verloes, A.
RefTitle Further delineation of the congenital form of X-linked
RefTitle dyskeratosis congenita (hoyeraal-hreidarsson syndrome).
RefLoc Eur J Pediatr 162:863-867 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3748
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 348
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 49
Feature /change: T -> M
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Chronic diarrhea; Oral ulcerations;
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Failure to thrive;
Symptoms Microcephaly; Ataxia; Cerebellar hypoplasia;
Symptoms Physical findings:
Symptoms Aplastic anemia; Thrombocytopenia;
Sex XY
Ethnic origin Caucasoid; France
Relative DKC1base; D0008 brother
Comment Patient died at the age of 2 years due to Pneumocystis
Comment carinii interstitial pneumonia
//
ID T49M(2b); standard; MUTATION;
Accession D0008
Systematic name g.3748C>T, c.146C>T, r.146c>u, p.Thr49Met
Original code Family 1, Patient 2
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 18-May-2004 (Rel. 1, Created)
Date 18-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14648217
RefAuthors Sznajer, Y., Baumann, C., David, A., Journel, H., Lacombe,
RefAuthors D., Perel, Y., Blouin, P., Segura, J. F., Cezard, J. P.,
RefAuthors Peuchmaur, M., Vulliamy, T., Dokal, I., Verloes, A.
RefTitle Further delineation of the congenital form of X-linked
RefTitle dyskeratosis congenita (hoyeraal-hreidarsson syndrome).
RefLoc Eur J Pediatr 162:863-867 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3748
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 348
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 49
Feature /change: T -> M
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Sepsis; Chronic diarrhea; Oral ulcerations;
Symptoms Neurologic and developmental defects:
Symptoms Ataxia;
Symptoms Other: motor delay
Symptoms Physical findings:
Symptoms Aplastic anemia; Thrombocytopenia;
Symptoms Other: oesophagial stenosis, rectorrhagia, progressive
Symptoms lymphopenia
Sex XY
Ethnic origin Caucasoid; France
Relative DKC1base; D0007 brother
Comment Patient died at the age of 4 years from sepsis and
Comment pancytopenia
//
ID T49M(3); standard; MUTATION;
Accession D0009
Systematic name g.3748C>T, c.146C>T, r.146c>u, p.Thr49Met
Original code Family 3, Patient 4
Description A point mutation in the exon 3 leading to an amino acid
Description change
Date 18-May-2004 (Rel. 1, Created)
Date 18-May-2004 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 14648217
RefAuthors Sznajer, Y., Baumann, C., David, A., Journel, H., Lacombe,
RefAuthors D., Perel, Y., Blouin, P., Segura, J. F., Cezard, J. P.,
RefAuthors Peuchmaur, M., Vulliamy, T., Dokal, I., Verloes, A.
RefTitle Further delineation of the congenital form of X-linked
RefTitle dyskeratosis congenita (hoyeraal-hreidarsson syndrome).
RefLoc Eur J Pediatr 162:863-867 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 3748
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 3
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 348
Feature /codon: acg -> atg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 49
Feature /change: T -> M
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Chronic diarrhea;
Symptoms Other: pyelonephritis with a bilateral vesico-renal
Symptoms reflux, rectorrhagia, relapsing infections
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Mental retardation;
Symptoms Microcephaly; Cerebellar hypoplasia;
Symptoms Other: periferal hypertonia
Symptoms Physical findings:
Symptoms Aplastic anemia; Thrombocytopenia; Nail dystrophy;
Symptoms Mucosal leukoplakia;
Symptoms Other: non-inflammatoru ulcerations of the oesophagial
Symptoms mucosa, pan-hypogammaglobulinaemia
Sex XY
Ethnic origin Caucasoid
Comment Patient died at the age of 30 months from gangrenous
Comment ecthyma
//
ID L72F(1); standard; MUTATION;
Accession D0010
Systematic name g.4192C>T, c.214C>T, r.214c>u, p.Leu72Phe
Original code patient
Description A point mutation in the exon 4 leading to an amino acid
Description change
Date 02-May-2008 (Rel. 1, Created)
Date 02-May-2008 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 17417794
RefAuthors Hamidah, A., Rashid, R. A., Jamal, R., Zhao, M., Kanegane,
RefAuthors H.
RefTitle X-linked dyskeratosis congenita in malaysia.
RefLoc Pediatr Blood Cancer:432 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 4192
Feature /change: c -> t
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028; GI:33874914; DKC1C: 416
Feature /codon: ctt -> ttt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 72
Feature /change: L -> F
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Oral ulcerations;
Symptoms Other: upper respiratory tract infection
Symptoms Neurologic and developmental defects:
Symptoms Bone marrow hypoplasia;
Symptoms Physical findings:
Symptoms Aplastic anemia; Pancytopenia; Thrombocytopenia; Reticulate
Symptoms skin pigmentation; Nail dystrophy; Mucosal leukoplakia;
Age 7
Sex XY
Ethnic origin Mongoloid; Malaysia
Treatment Bone marrow transplantation: Yes
//
ID S121G(1a); standard; MUTATION;
Accession D0001
Systematic name g.4556A>G, c.361A>G, r.361a>g, p.Ser121Gly
Original code Family A, Case 1
Description A point mutation in the exon 5 leading to an amino acid
Description change
Date 26-Nov-2003 (Rel. 1, Created)
Date 26-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583221
RefAuthors Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C.
RefAuthors M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C.,
RefAuthors Poustka, A., Mason, P. J., Dokal, I.
RefTitle Unexplained aplastic anaemia, immunodeficiency, and
RefTitle cerebellar hypoplasia (hoyeraal-hreidarsson syndrome) due
RefTitle to mutations in the dyskeratosis congenita gene, DKC1.
RefLoc Br J Haematol 107:335-339 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 4556
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 563
Feature /codon: agt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 121
Feature /change: S -> G
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Pneumonia; Laryngitis
Symptoms Other: Patient died from complications of
Symptoms Staphylococcus aureus infection aged 67 months
Symptoms Neurologic and developmental defects:
Symptoms Mental retardation; Failure to thrive; Microcephaly;
Symptoms Cerebellar hypoplasia
Symptoms Physical findings:
Symptoms Other: facial dysmorphy
Sex XY
Relative DKC1base; D0002 brother
//
ID S121G(1b); standard; MUTATION;
Accession D0002
Systematic name g.4556A>G, c.361A>G, r.361a>g, p.Ser121Gly
Original code Family A, Case 2
Description A point mutation in the exon 5 leading to an amino acid
Description change
Date 26-Nov-2003 (Rel. 1, Created)
Date 26-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10583221
RefAuthors Knight, S. W., Heiss, N. S., Vulliamy, T. J., Aalfs, C.
RefAuthors M., McMahon, C., Richmond, P., Jones, A., Hennekam, R. C.,
RefAuthors Poustka, A., Mason, P. J., Dokal, I.
RefTitle Unexplained aplastic anaemia, immunodeficiency, and
RefTitle cerebellar hypoplasia (hoyeraal-hreidarsson syndrome) due
RefTitle to mutations in the dyskeratosis congenita gene, DKC1.
RefLoc Br J Haematol 107:335-339 (1999)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 4556
Feature /change: a -> g
Feature /genomic_region: exon; 5
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 563
Feature /codon: agt -> ggt; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 121
Feature /change: S -> G
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Other: Patient died from complications of
Symptoms Staphylococcus aureus infection aged 67 months
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Mental retardation;
Symptoms Failure to thrive; Developmental delay; Microcephaly;
Symptoms Cerebellar hypoplasia; Bone marrow hypoplasia
Symptoms Physical findings:
Symptoms Other: facial dysmorphy
Age 1,5
Sex XY
Relative DKC1base; D0001 brother
//
ID A353V(1); standard; MUTATION; PUA
Accession D0005
Systematic name g.11395C>T, c.1058C>T, r.1058c>u, p.Ala353Val
Original code 4-year-old boy
Description A point mutation in the exon 11 leading to an amino acid
Description change in the PUA domain
Date 27-Nov-2003 (Rel. 1, Created)
Date 27-Nov-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 10700698
RefAuthors Yaghmai, R., Kimyai-Asadi, A., Rostamiani, K., Heiss, N.
RefAuthors S., Poustka, A., Eyaid, W., Bodurtha, J., Nousari, H. C.,
RefAuthors Hamosh, A., Metzenberg, A.
RefTitle Overlap of dyskeratosis congenita with the hoyeraal-
RefTitle hreidarsson syndrome.
RefLoc J Pediatr 136:390-393 (2000)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 11395
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028: 1260
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 353
Feature /change: A -> V
Feature /domain: PUA
Diagnosis Dyskeratosis congenita/Hoyeraal-Hreidarsson syndrome
Symptoms Infections:
Symptoms Oral ulcers; Gastric ulcers
Symptoms Neurologic and developmental defects:
Symptoms Prenatal growth retardation; Mental retardation;
Symptoms Developmental delay; Microcephaly; Ataxia; Cerebellar
Symptoms hypoplasia; Bone marrow hypoplasia;
Symptoms Physical findings:
Symptoms Pancytopenia; Thrombocytopenia; Reticulate skin
Symptoms pigmentation; Nail dystrophy; Mucosal leukoplakia;
Symptoms Other: decreased oral intake and regurgitation,
Symptoms esophageal strictures, hypogammaglobulinemia,
Symptoms preretinal hemorrhage
Age 4
Sex XY
//
ID A353V(2); standard; MUTATION; PUA
Accession D0011
Systematic name g.11395C>T, c.1058C>T, r.1058c>u, p.Ala353Val
Description A point mutation in the exon 11 leading to an amino acid
Description change in the PUA domain
Date 20-Jul-2010 (Rel. 1, Created)
Date 20-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 12921762
RefAuthors Kobayashi, N., Agematsu, K., Nagumo, H., Yasui, K.,
RefAuthors Katsuyama, Y., Yoshizawa, K., Ota, M., Yachie, A.,
RefAuthors Komiyama, A.
RefTitle Expansion of clonotype-restricted HLA-identical maternal
RefTitle CD4+ T cells in a patient with severe combined
RefTitle immunodeficiency and a homozygous mutation in the artemis
RefTitle gene.
RefLoc Clin Immunol:159-166 (2003)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 11395
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 11
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: missense
Feature /loc: IDRefSeq: C0028; GI:33874914; DKC1C: 1260
Feature /codon: gcg -> gtg; 2
Feature aa; 3
Feature /rnalink: 2
Feature /name: aa substitution
Feature /loc: UniProt: O60832; DKC1_HUMAN: 353
Feature /change: A -> V
Feature /domain: PUA
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Cutaneous pigmentary changes; Watering of eyes;
Symptoms Hyper-hypo pigmented patches on sun exposed areas;
Symptoms Low testicular volume;
Age 12
Sex XY
Ethnic origin India
Comment Patient's brother died of respiratory failure at the
Comment age of 12.
//
ID Intron 12(1); standard; MUTATION;
Accession D0012
Systematic name g.12949G>A, c.1259+1G>A, r.1259+1g>a
Description A point mutation in the intron 12 leading to aberrant
Description splicing
Date 20-Jul-2010 (Rel. 1, Created)
Date 20-Jul-2010 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefCrossRef PUBMED; 18627054
RefAuthors Pearson, T., Curtis, F., Al-Eyadhy, A., Al-Tamemi, S.,
RefAuthors Mazer, B., Dror, Y., Abish, S., Bale, S., Compton, J.,
RefAuthors Ray, R., Scott, P., Der Kaloustian, V. M.
RefTitle An intronic mutation in DKC1 in an infant with Høyeraal-
RefTitle hreidarsson syndrome.
RefLoc Am J Med Genet A:2159-2161 (2008)
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0028: 12949
Feature /change: g -> a
Feature /genomic_region: intron; 12
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: unknown
Feature /inexloc: +1
Feature aa; 3
Feature /rnalink: 2
Feature /name: unknown
Diagnosis Hoyeraal-Hreidarsson syndrome
Symptoms Physical findings:
Symptoms Thrombocytopenia;
Symptoms Other: Hyaline membrane disease; Axial hypotonia;
Symptoms Severe hypoplasia; Pulmonary hemorrhage;
Age 0
Sex XY
Treatment IVIG
Comment Patient's mother also had the asme mutation in one of the
Comment alleles.
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