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  • Title: 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.
    Author: Eytan O, Sarig O, Israeli S, Mevorah B, Basel-Vanagaite L, Sprecher E.
    Journal: Clin Exp Dermatol; 2014 Mar; 39(2):182-6. PubMed ID: 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.
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