Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. 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.
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings / Falco, Mariateresa; Franzè, Annamaria; Iossa, Sandra; De Falco, Luigia; Gambale, Antonella; Marciano, Elio; Iolascon, Achille. - In: AMERICAN JOURNAL OF MEDICAL GENETICS. PART A. - ISSN 1552-4825. - 173:5(2017), pp. 1348-1352. [10.1002/ajmg.a.38146]
Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings
Falco, Mariateresa;Franzè, Annamaria;Iossa, Sandra;De Falco, Luigia;Gambale, Antonella;Marciano, Elio;Iolascon, Achille
2017
Abstract
Bjornstad syndrome is a rare condition characterized by pili torti and sensorineural hearing loss associated with pathological variations in BCS1L. Mutations in this gene are also associated with the more severe complex III deficiency and GRACILE syndrome. 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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.