Bardet –Biedl syndrome in two unrelated patients with identical compound heterozygous SCLT1 mutations

In this study, we identified two unrelated Japanese patients with clinical diagnoses of BBS associated with compound heterozygousSCLT1 mutation. Patient 1 was a 10-year-old girl, and patient 2 was a 22-year-old man. Both the patients showed severe renal dysfunction in childhood, RP, mild intellectual disability, short stature, and truncal obesity, without oral aberrations and polydactyly. Patient 2 also had hypogonadism. We identified two missense variants inSCLT1, c.[1218G  >  A] and [1631A >  G], in both the patients by next-generation sequencing. Subsequent cDNA analysis revealed that c.1218G >  A affected exon 14 skipping inSCLT1. To date,SCLT1 has been reported as the causative gene of oral –facial–digital syndrome type IX, and Senior–Løken syndrome. The phenotypes of both the present patients were compatible with BBS. These results highlightSCLT1 as an additional candidate for BBS phenotype in an autosomal recessive manner.
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research