A novel splice-site mutation in the AAGAB gene segregates with hereditary punctate palmoplantar keratoderma and congenital dysplasia of the hip in a large family.
Clin Exp Dermatol
; 39(2): 182-6, 2014 Mar.
Article
in En
| MEDLINE
| ID: mdl-24289292
ABSTRACT
BACKGROUND:
Palmoplantar keratoderma punctata (PPKP) is a heterogeneous group of disorders characterized by hyperkeratotic papules occurring over the palms and soles during adolescence. PPKP type 1, also known as PPKP Buschke-Fischer-Brauer type, was recently found to result from mutations in the AAGAB gene, encoding the p34 protein. PPKP type 1 is usually not associated with extracutaneous features.AIM:
To investigate a large family in which PPKP1 was present in association with congenital dysplasia of the hip (CDH).METHODS:
A combination of direct sequencing of candidate genes and reverse-transcription PCR was used to identify the molecular basis underlying the clinical features displayed by the patients.RESULTS:
Direct sequencing showed a novel intronic mutation in AAGAB, which was found to cosegregate with PPKP and CDH throughout the family. The mutation was found to result in aberrant RNA splicing, leading to exon 4 skipping.CONCLUSIONS:
This observation suggests either the existence of a CDH-associated gene in the vicinity of AAGAB, or a hitherto unrecognized role for p34 during skeletal development.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Carrier Proteins
/
Keratoderma, Palmoplantar
/
RNA Splice Sites
/
Hip Dislocation, Congenital
/
Mutation
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
Clin Exp Dermatol
Year:
2014
Document type:
Article