Tags

Type your tag names separated by a space and hit enter

Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings.
Am J Med Genet A. 2017 May; 173(5):1348-1352.AJ

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+Show Affiliations

Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy. CEINGE, Biotecnologie Avanzate, Naples, Italy.CEINGE, Biotecnologie Avanzate, Naples, Italy. Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.CEINGE, Biotecnologie Avanzate, Naples, Italy.CEINGE, Biotecnologie Avanzate, Naples, Italy.Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy. CEINGE, Biotecnologie Avanzate, Naples, Italy.Unit of Audiology, Department of Neurosciences, Reproductive and Odontostomatologic Sciences, University of Naples "Federico II", Naples, Italy.Department of Molecular Medicine and Medical Biotechnologies, "Federico II" University of Naples, Naples, Italy. CEINGE, Biotecnologie Avanzate, Naples, Italy.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28322498

Citation

Falco, Mariateresa, et al. "Novel Compound Heterozygous Mutations in BCS1L Gene Causing Bjornstad Syndrome in Two Siblings." American Journal of Medical Genetics. Part A, vol. 173, no. 5, 2017, pp. 1348-1352.
Falco M, Franzè A, Iossa S, et al. Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. Am J Med Genet A. 2017;173(5):1348-1352.
Falco, M., Franzè, A., Iossa, S., De Falco, L., Gambale, A., Marciano, E., & Iolascon, A. (2017). Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. American Journal of Medical Genetics. Part A, 173(5), 1348-1352. https://doi.org/10.1002/ajmg.a.38146
Falco M, et al. Novel Compound Heterozygous Mutations in BCS1L Gene Causing Bjornstad Syndrome in Two Siblings. Am J Med Genet A. 2017;173(5):1348-1352. PubMed PMID: 28322498.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Novel compound heterozygous mutations in BCS1L gene causing Bjornstad syndrome in two siblings. AU - Falco,Mariateresa, AU - Franzè,Annamaria, AU - Iossa,Sandra, AU - De Falco,Luigia, AU - Gambale,Antonella, AU - Marciano,Elio, AU - Iolascon,Achille, Y1 - 2017/03/21/ PY - 2016/03/31/received PY - 2016/12/27/revised PY - 2017/01/02/accepted PY - 2017/3/23/pubmed PY - 2017/5/10/medline PY - 2017/3/22/entrez KW - BCS1L KW - Bjornstad syndrome KW - hearing loss KW - novel mutations KW - pili torti KW - siblings SP - 1348 EP - 1352 JF - American journal of medical genetics. Part A JO - Am J Med Genet A VL - 173 IS - 5 N2 - 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. SN - 1552-4833 UR - https://wwww.unboundmedicine.com/medline/citation/28322498/Novel_compound_heterozygous_mutations_in_BCS1L_gene_causing_Bjornstad_syndrome_in_two_siblings_ L2 - https://doi.org/10.1002/ajmg.a.38146 DB - PRIME DP - Unbound Medicine ER -