Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles.
J Invest Dermatol
; 136(6): 1097-1105, 2016 06.
Article
em En
| MEDLINE
| ID: mdl-26902920
ABSTRACT
Hypotrichosis is an abnormal condition characterized by decreased hair density and various defects in hair structure and growth patterns. In particular, in woolly hair, hypotrichosis is characterized by a tightly curled structure and abnormal growth. In this study, we present a detailed comparative examination of individuals affected by autosomal-recessive hypotrichosis (ARH), which distinguishes two types of ARH. Earlier, we demonstrated that exon 4 deletion in the lipase H gene caused an ARH (hypotrichosis 7; MIM 604379) in populations of the Volga-Ural region of Russia. Screening for this mutation in all affected individuals revealed its presence only in the group with the hypotrichosis 7 phenotype. Other patients formed a separate group of woolly hair-associated ARH, with a homozygous missense mutation c.712G>T (p.Val238Leu) in a highly conserved position of type I keratin KRT25 (K25). Haplotype analysis indicated a founder effect. An expression study in the HaCaT cell line demonstrated a deleterious effect of the p.Val238Leu mutation on the formation of keratin intermediate filaments. Hence, we have identified a previously unreported missense mutation in the KRT25 gene causing ARH with woolly hair.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
/
Mutação de Sentido Incorreto
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Alopecia
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Queratinas Específicas do Cabelo
Limite:
Female
/
Humans
/
Male
País/Região como assunto:
Asia
/
Europa
Idioma:
En
Revista:
J Invest Dermatol
Ano de publicação:
2016
Tipo de documento:
Article