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Last update

21/6/2017

Gene: forkhead box N1; FOXN1

Gene Symbol: FOXN1
OMIM: 600838
Chromosome location: 17q11.2

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

T-cell immunodeficiency, congenital alopecia, and nail dystrophy || c.763C>T

Phenotype:	T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Dna Change:	c.763C>T
Protein Change:	p.Arg255X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 4
Transcript:	NM_003593.2

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	Southern	6.52% heterozygous carriers (55 patients / 843 patients)	NA	Adriani M et al., 2004Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C, . Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.. Ann. Hum. Genet.. 2004; 68(0):265-8

References

Adriani M, Martinez-Mir A, Fusco F, Busiello R, Frank J, Telese S, Matrecano E, Ursini MV, Christiano AM, Pignata C, Ancestral founder mutation of the nude (FOXN1) gene in congenital severe combined immunodeficiency associated with alopecia in southern Italy population.Ann. Hum. Genet.. 2004; 68(0):265-8

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: forkhead box N1; FOXN1

References