Journal
JOURNAL OF HUMAN GENETICS
Volume 58, Issue 12, Pages 819-821Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/jhg.2013.101
Keywords
BCS1L; Bjornstad's syndrome; pilitorti; sensorineural hearing loss
Categories
Funding
- ZonMW [40-00812-98-09047]
- PAS/I-9/Project award
Ask authors/readers for more resources
Bjornstad syndrome is an extremely rare condition characterized by pilitorti and nerve deafness. Only few large families have been reported worldwide. Here we describe a large Pakistani family with five affected individuals. The hair fibers of all the patients were twisted around their axis and devoid of any pigment. In addition the patients had a moderate-to-severe degree of hearing impairment. Genotyping with high-density single-nucleotide polymorphism arrays showed homozygosity in two intervals on chromosome 2. Linkage with one of these regions (genomic position 218745685-221025443, hg19) was confirmed. This region encompasses the BCS1L gene. Mutations in this gene have previously been associated with Bjornstad's syndrome. We sequenced the BCS1L gene for identification of the causative mutation in the family. A novel homozygous missense mutation c.901T>A was identified, which segregated with the disease in the family. This mutation results in the amino acid change p. Tyr301Asn and was predicted to be pathogenic by bioinformatics tools.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available