An intronic alteration of the fibroblast growth factor 10 gene causing ALSG-(aplasia of lacrimal and salivary glands) syndrome.

ABSTRACT:

Background

A combined aplasia, hypoplasia or atresia of lacrimal points and salivary glands is rarely diagnosed. Those patients suffer from epiphora, xerostomia and severe dental caries. This phenotype represents the autosomal-dominant aplasia of lacrimal and salivary glands syndrome (ALSG). Recently, aberrations of the Fibroblast Growth Factor 10 (FGF10) gene have been identified to be causative for this disorder.

Methods

We performed a sequence analysis of the FGF10 gene of a patient with ALSG-syndrome and his also affected brother as well as 193 controls. The FGF10 transcript was analyzed using RNA extracted from primary fibroblasts of the patient's mucosa.

Results

We detected a novel heterozygous sequence variation in intron 2 (c.430-1, G > A) causing the ALSG syn

SUBMITTER: Scheckenbach K 

PROVIDER: S-EPMC2626586 | biostudies-literature | 2008 Dec

REPOSITORIES: biostudies-literature