Database FOXN1base
Version 1.0
File foxn1pub.txt
Date 15-Jun-2007
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/foxn1base/
IDR factfile http://structure.bmc.lu.se/idbase/IDRefSeq/xml/idr/ff/FF128.html
Gene FOXN1
Disease T-cell immunodeficiency, congenital alopecia, and nail
Disease dystrophy
OMIM 600838
GDB 9862896
Sequence IDRefSeq:D0034; IDRefSeq:C0034; UniProt:O15353
Numbering start of the entry
Funding Tampere University Hospital Medical Research Fund
Funding European Union
Comments sequence entry reference in every entry
//
ID R255X(1),R255X(1); standard; MUTATION;
Accession W0001
Systematic name Allele 1 and 2: g.56561C>T, c.792C>T, p.R255X
Original code G.D.
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon
Date 14-Apr-2003 (Rel. 1, Created)
Date 14-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (14-Apr-2003) to FOXN1base.
RefLoc Claudio Pignata, Via S. Pansini n°5, 80131, Naples, italy,
RefLoc Tel 0039-0817464340, Fax 0039-0815451278, e-mail
RefLoc pignata@unina.it
RefNumber [2]
RefCrossRef PUBMED; 8911612
RefAuthors Pignata, C., Fiore, M., Guzzetta, V., Castaldo, A.,
RefAuthors Sebastio, G., Porta, F., Guarino, A.
RefTitle Congenital alopecia and nail dystrophy associated with
RefTitle severe functional T-cell immunodeficiency in two sibs.
RefLoc Am J Med Genet 65:167-170 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10206641
RefAuthors Frank, J., Pignata, C., Panteleyev, A. A., Prowse, D. M.,
RefAuthors Baden, H., Weiner, L., Gaetaniello, L., Ahmad, W., Pozzi,
RefAuthors N., Cserhalmi-Friedman, P. B., Aita, V. M., Uyttendaele,
RefAuthors H., Gordon, D., Ott, J., Brissette, J. L., Christiano, A.
RefAuthors M.
RefTitle Exposing the human nude phenotype.
RefLoc Nature 398:473-474 (1999)
RefNumber [4]
RefCrossRef PUBMED; 11159512
RefAuthors Pignata, C., Gaetaniello, L., Masci, A. M., Frank, J.,
RefAuthors Christiano, A., Matrecano, E., Racioppi, L.
RefTitle Human equivalent of the mouse nude/SCID phenotype: long-
RefTitle term evaluation of immunologic reconstitution after bone
RefTitle marrow transplantation.
RefLoc Blood 97:880-885 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0034: 56561
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0034: 792
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15353; FOXN1_HUMAN: 255
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0034: 56561
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0034: 792
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15353; FOXN1_HUMAN: 255
Feature /change: R -> X
Diagnosis Date: 21/02/94
Status quo Alive
Symptoms Infections; severe
Symptoms Respiratory tract: Intestitial pneumopathy
Symptoms Gastrointestinal tract: Recurrent diarrhea
Symptoms Skin: Erythrodermia. Pyogenic infection
Symptoms Other:
Symptoms Congenital alopecia
Symptoms of scalp: presence
Symptoms of eye brows: presence
Symptoms of eye lashes: presence
Symptoms Nail dystrophy
Symptoms Leuconychia: presence
Symptoms Koilonychia: presence
Symptoms Thymus: absence
Symptoms Hematological abnormalities:
Symptoms Anemia, date: 21/02/1994: absence
Symptoms Thrombocytopenia, date: 21/02/1994: absence
Symptoms Neutropenia, date: 21/02/1994: absence
WBC WBC, date: 21/02/1994: 6400x1000/mm3
Lymphocytes Total lymphocyte, date: 21/02/1994: 2688x1000/mm3
Lymphocytes Immunophenotypes:
Lymphocytes total CD3, date: 21/02/1994: 400/mm3
Lymphocytes total CD4, date: 21/02/1994: 140/mm3
Lymphocytes total CD4 CD45RA, date: 21/02/1994: 0/mm3
Lymphocytes total CD8 CD45RA, date: 21/02/1994: 130/mm3
Lymphocytes total CD4 CD45RO, date: 21/02/1994: 140/mm3
Lymphocytes total CD8 CD45RO/mm3, date: 21/02/1994: 70/mm3
Lymphocytes total CD19, date: 21/02/1994: 1320/mm3
Lymphocytes total CD56, date: 21/02/1994: 520/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 21/02/1994: absent
Lymphocytes anti-CD3, date: 21/02/1994: absent
Lymphocytes PwM, date: 21/02/1994: absent
Lymphocytes T-cell activation markers:
Lymphocytes CD3 CD25 upon stimulation, date: 21/02/1994: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Lymphocytes CD3 CD71 upon stimulation, date: 21/02/1994: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Lymphocytes CD3 HLADR upon stimulation, date: 21/02/1994: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Immunoglobulins date (closest to diagnosis): 21/02/1994
IgA 9.3 mg/dL, compare with normal for age: normal
IgG 461 mg/dL, compare with normal for age: normal
IgM 74.9 mg/dL, compare with normal for age: normal
Response Antibody responses
Response D/T: low
Response HBsAg: low
Response Blood group: B Rh+
Response Isoagglutinins: anti-A: abs; anti-B: abs
Treatment Bone marrow transplantation: Yes: Date: 16/03/1994
Treatment Donor: matched sibling
Treatment Source: full marrow
Treatment T-cell chimerism: mixed
Treatment Outcome: Alive
Treatment Immunological reconstitution: transient
Treatment CD4 CD45RA; not increased
Treatment CD8 CD45RA: increased
Treatment PHA response at 5 yrs post BMT: low
Sex XX
Age 0.5
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative Description of pedigree: Consanguineous parents.
Relative Extended pedigree under investigation.
Relative Other affected family members: Yes; phenotype: complete
//
ID R255X(2),R255X(2); standard; MUTATION;
Accession W0002
Systematic name Allele 1 and 2: g.56561C>T, c.792C>T, p.R255X
Original code A.D.
Description Allele 1 and 2: point mutation in the exon 4 leading to a
Description premature stop codon
Date 15-Apr-2003 (Rel. 1, Created)
Date 15-Apr-2003 (Rel. 1, Last updated, Version 1)
RefNumber [1]
RefLoc Submitted (15-Apr-2003) to FOXN1base.
RefLoc Claudio Pignata, Via S. Pansini n°5, 80131, Naples, italy,
RefLoc Tel 0039-0817464340, Fax 0039-0815451278, e-mail
RefLoc pignata@unina.it
RefNumber [2]
RefCrossRef PUBMED; 8911612
RefAuthors Pignata, C., Fiore, M., Guzzetta, V., Castaldo, A.,
RefAuthors Sebastio, G., Porta, F., Guarino, A.
RefTitle Congenital alopecia and nail dystrophy associated with
RefTitle severe functional T-cell immunodeficiency in two sibs.
RefLoc Am J Med Genet 65:167-170 (1997)
RefNumber [3]
RefCrossRef PUBMED; 10206641
RefAuthors Frank, J., Pignata, C., Panteleyev, A. A., Prowse, D. M.,
RefAuthors Baden, H., Weiner, L., Gaetaniello, L., Ahmad, W., Pozzi,
RefAuthors N., Cserhalmi-Friedman, P. B., Aita, V. M., Uyttendaele,
RefAuthors H., Gordon, D., Ott, J., Brissette, J. L., Christiano, A.
RefAuthors M.
RefTitle Exposing the human nude phenotype.
RefLoc Nature 398:473-474 (1999)
RefNumber [4]
RefCrossRef PUBMED; 11159512
RefAuthors Pignata, C., Gaetaniello, L., Masci, A. M., Frank, J.,
RefAuthors Christiano, A., Matrecano, E., Racioppi, L.
RefTitle Human equivalent of the mouse nude/SCID phenotype: long-
RefTitle term evaluation of immunologic reconstitution after bone
RefTitle marrow transplantation.
RefLoc Blood 97:880-885 (2001)
FeatureHeader allele; 1
Feature dna; 1
Feature /rnalink: 2
Feature /name: point
Feature /loc: IDRefSeq: D0034: 56561
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 2
Feature /dnalink: 1
Feature /aalink: 3
Feature /name: nonsense
Feature /loc: IDRefSeq: C0034: 792
Feature /codon: cga -> tga; 1
Feature aa; 3
Feature /rnalink: 2
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15353; FOXN1_HUMAN: 255
Feature /change: R -> X
FeatureHeader allele; 2
Feature dna; 4
Feature /rnalink: 5
Feature /name: point
Feature /loc: IDRefSeq: D0034: 56561
Feature /change: c -> t
Feature /CpG; 1
Feature /genomic_region: exon; 4
Feature rna; 5
Feature /dnalink: 4
Feature /aalink: 6
Feature /name: nonsense
Feature /loc: IDRefSeq: C0034: 792
Feature /codon: cga -> tga; 1
Feature aa; 6
Feature /rnalink: 5
Feature /name: out of frame translation; premature termination
Feature /loc: UniProt: O15353; FOXN1_HUMAN: 255
Feature /change: R -> X
Diagnosis Date: 22/11/91
Status quo Deceased; date of death: 19/05/92; cause of death:
Status quo Bronchopneumonia resistant to therapy. Liver failure
Symptoms Infections; severe
Symptoms Respiratory tract: Bronchopneumonia
Symptoms Gastrointestinal tract: Chronic diarrhea
Symptoms Skin: Abscesses
Symptoms Other:
Symptoms Congenital alopecia
Symptoms of scalp: presence
Symptoms of eye brows: presence
Symptoms of eye lashes: presence
Symptoms Nail dystrophy
Symptoms Leuconychia: presence
Symptoms Koilonychia: presence
Symptoms Thymus: absence
Symptoms Other clinical features: Erithrodermia, lymph node
Symptoms enlargement, hepatosplenomegaly, failure to thrive,
Symptoms progressive liver disease
Symptoms Hematological abnormalities:
Symptoms Anemia, date: 22/11/1991: presence
Symptoms Thrombocytopenia, date: 2/11/91: absence
Symptoms Neutropenia, date: 2/11/91: absence
Lymphocytes Total lymphocyte, date: 22/11/1991
Lymphocytes Immunophenotypes:
Lymphocytes total CD3, date: 22/11/1991: 1379/mm3
Lymphocytes total CD4, date: 22/11/1991: 1066/mm3
Lymphocytes total CD4 CD45RA: untested
Lymphocytes total CD8 CD45RA: 1379
Lymphocytes total CD4 CD45RO: untested
Lymphocytes total CD8 CD45RO/mm3: untested
Lymphocytes total CD19, date: 22/11/1991: 3950/mm3
Lymphocytes total CD56, date: 22/11/1991: 1442/mm3
Lymphocytes Lymphocyte proliferation
Lymphocytes PHA, date: 22/11/1991: absent
Lymphocytes anti-CD3, date: 22/11/1991: absent
Lymphocytes PwM, date: 22/11/1991: absent
Lymphocytes T-cell activation markers:
Lymphocytes CD3 CD25 upon stimulation, date: 22/11/1991: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Lymphocytes CD3 CD71 upon stimulation, date: 22/11/1991: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Lymphocytes CD3 HLADR upon stimulation, date: DD/MM/YY: no
Lymphocytes increase/mm3
Lymphocytes Constitutively increased: no
Immunoglobulins date (closest to diagnosis): 22/11/1991
IgA 49 mg/dL, compare with normal for age: normal
IgE 2500-3000 kU/L, compare with normal for age: high
IgG 494 mg/dL, compare with normal for age: normal
IgM 80 mg/dL, compare with normal for age: normal
Response Antibody responses
Response Other, date:
Response Isoagglutinins: anti-A: low
Treatment No bone marrow transplatation
Sex XX
Age 0.5
Ethnic origin Caucasoid; Italy
Parents Consanguineous
Relative Description of pedigree: Parents consanguineous. Extended
Relative pedigree is under investigation
Relative Other affected family members: Yes; phenotype:complete
//
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