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

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.

• Authors: Mariateresa Falco, Annamaria Franzè, Sandra Iossa, Luigia De Falco, Antonella Gambale, Elio Marciano, Achille Iolascon
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 173 Issue 5 Pg. 1348-1352 (May 2017) ISSN: 1552-4833 [Electronic] United States
• PMID: 28322498 (Publication Type: Journal Article)
• Copyright: © 2017 Wiley Periodicals, Inc.

Chemical References

• BCS1L protein, human
• ATPases Associated with Diverse Cellular Activities
• Electron Transport Complex III

Topics

• ATPases Associated with Diverse Cellular Activities
• Electron Transport Complex III (genetics)
• Female
• Hair Diseases (genetics, pathology, physiopathology)
• Hearing Loss, Sensorineural (genetics, physiopathology)
• Humans
• Male
• Mitochondrial Diseases (congenital, genetics, physiopathology)
• Mutation, Missense
• Pedigree
• Siblings