Abstract
BackgroundA 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.MethodsWe 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.ResultsWe detected a novel heterozygous sequence variation in intron 2 (c.430-1, G > A) causing the ALSG syndrome. The alteration derogates the regular splice acceptor site and leads to the use of a new splice acceptor site 127 bp upstream of exon 3. The aberration was detected in the genomic DNA derived from two affected brothers, but not in 193 control individuals. Furthermore, no diseased member of the family displayed additional abnormalities that are indicative for the clinically overlapping lacrimo-auriculo-dento-digital syndrome (LADD).ConclusionThis family-based approach revealed an intronic variation of the FGF10 gene causing ALSG-syndrome. Our results expand the mutational and clinical spectrum of the ALSG syndrome.
Highlights
A combined aplasia, hypoplasia or atresia of lacrimal points and salivary glands is rarely diagnosed
In the present study we describe the clinical appearance of a patient that presented with an aplasia of both lacrimal punctae and bilateral aplasia of both parotid glands and the associated excretory ducts (ALSG syndrome)
To the best of our knowledge, this is the first report of a splicing mutation in the Fibroblast Growth Factor 10 (FGF10) gene
Summary
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. Affected patients suffer from irritable eyes, epiphora (constant tearing) and xerostomia (dryness of the mouth), accompanied with an increased risk of dental erosion, dental caries, periodontal disease, and oral infections Those findings were described for the first time in the context of the LADD syndrome (OMIM #149730), In contrast to the ALSG syndrome (OMIM #180920), it displays a more severe phenotype and is characterized by anomalies of the face, teeth, digits, toes, and ears including hearing loss, and hypospadias. Both sporadic and familial cases have been described for both syndromes.
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