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GENATLAS PHENOTYPE

last update : 02-10-2019

Symbol	WHN
Location	17q11.2
Name	NUDE phenotype
Other name(s)	winged helix nude T-cell immunodeficiency, congenital alopecia, and nail dystrophy
Corresponding gene	FOXN1
Main clinical features	characterized by alopecia with complete absence of scalp hair eyebrows and eyelashes, dystrophic nails and thymus aplasia with T-cell immunodeficiency complete athymia, congenital alopecia, and nail dystrophy
Genetic determination	autosomal recessive
Function/system disorder	dermatology
	defense and immunity
Type	disease

Remark(s)

homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus FOXN1 haploinsufficiency causes low T cell receptor excision circles (TRECs) and T cell lymphopenia at birth that progressively improves with age (PMID: 31447097)) FOXN1 compound heterozygous mutations cause selective thymic hypoplasia (PMID: 31566583))