Mutations in LPAR6/P2RY5 and LIPH are associated with woolly hair and/or hypotrichosis.
J Eur Acad Dermatol Venereol
; 27(5): 545-9, 2013 May.
Article
em En
| MEDLINE
| ID: mdl-22385360
ABSTRACT
BACKGROUND:
Woolly hair (WH) belongs to a family of disorders characterized by hair shaft anomalies that clinically presents with tightly curled hair, which can be divided into syndromic and non-syndromic forms of WH. We have recently identified mutations in both LPAR6/P2RY5 and LIPH that are associated with autosomal recessive woolly hair (ARWH).OBJECTIVE:
To study the underlying genetic causes of autosomal woolly hair in Pakistani population.METHODS:
We studied 10 Pakistani families with ARWH for mutations in LPAR6/P2RY5 and LIPH and then performed haplotype analysis to confirm their segregation in the families.RESULTS:
We identified five mutations in LPAR6/P2RY5, among which three were recurrent and two were novel in eight Pakistani families. We then showed that two of the mutations in LPAR6/P2RY5 are founder mutations in Pakistani families. Moreover, we identified two recurrent mutations in the LIPH gene in two Pakistani families.CONCLUSION:
Our study extends the spectrum of mutations in LPAR6/P2RY5 gene and underscores those mutations in LPAR6/P2RY5 and LIPH result in similar phenotypes.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Receptores Purinérgicos P2
/
Receptores de Ácidos Lisofosfatídicos
/
Doenças do Cabelo
/
Hipotricose
/
Lipase
/
Mutação
Tipo de estudo:
Risk_factors_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article