Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings

We report the first Italian patients with Bjornstad syndrome, two siblings with pili torti and sensorineural hearing loss, in whom we detected two novel compound heterozygous mutations in BCS1L. A thorough clinical evaluation did not reveal any features consistent with complex III deficiency or GRACILE syndrome.

Source: American Journal of Medical Genetics Part A - March 20, 2017 Category: Genetics & Stem Cells Authors: Mariateresa Falco, Annamaria Franz è, Sandra Iossa, Luigia De Falco, Antonella Gambale, Elio Marciano, Achille Iolascon Tags: CLINICAL REPORT Source Type: research