Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
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.
Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy.|CEINGE, Biotecnologie Avanzate, Naples, Italy.
Mariateresa
http://orcid.org/0000-0003-3214-6437
M
Falco
CEINGE, Biotecnologie Avanzate, Naples, Italy.|Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
Annamaria
A
Franzè
CEINGE, Biotecnologie Avanzate, Naples, Italy.
Sandra
S
Iossa
CEINGE, Biotecnologie Avanzate, Naples, Italy.
Luigia
L
De Falco
Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy.|CEINGE, Biotecnologie Avanzate, Naples, Italy.
Antonella
A
Gambale
Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.
Elio
E
Marciano
Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy.|CEINGE, Biotecnologie Avanzate, Naples, Italy.
Achille
A
Iolascon
D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III / Q000235:genetics*; D005260:Female; D006201:Hair Diseases / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008297:Male; D028361:Mitochondrial Diseases / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D020125:Mutation, Missense; D010375:Pedigree; D035781:Siblings
C435491:BCS1L protein, human; D000074183:ATPases Associated with Diverse Cellular Activities; D014450:Electron Transport Complex III
BCS1L; Bjornstad syndrome; hearing loss; novel mutations; pili torti; siblings