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- Title
A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness.
- Authors
Mégarbané, André; Slim, Rima; Nürnberg, Gudrun; Ebermann, Inga; Nürnberg, Peter; Bolz, Hanno Jörn
- Abstract
We have earlier described a syndrome characterized by microcephaly, cutis verticis gyrata, retinitis pigmentosa, cataracts, hearing loss and mental retardation (Mendelian inheritance in man (MIM) no: 605685) in two brothers from a non-consanguineous Lebanese family. In view of the rarity of the disorder and the high rate of inbreeding in the Lebanese population, we assumed an autosomal recessive trait inherited from a common ancestor. A genomewide scan was performed. The single locus on the long arm of chromosome 8 that showed homozygosity by descent comprised the gene responsible for Cohen syndrome (CS), VPS13B. We then sequenced VPS13B in the patients and found a homozygous splice site mutation. Several possible explanations for the overlap between CS and the clinical features observed in our patients are discussed. Our data highlight the potential of high-resolution homozygosity mapping in small populations with a high rate of inbreeding.European Journal of Human Genetics (2009) 17, 1076–1079; doi:10.1038/ejhg.2008.273; published online 4 February 2009
- Subjects
RETINITIS pigmentosa; PIGMENTATION disorders; HUMAN genetics; SENSORINEURAL hearing loss; LOCUS (Genetics)
- Publication
European Journal of Human Genetics, 2009, Vol 17, Issue 8, p1076
- ISSN
1018-4813
- Publication type
Article
- DOI
10.1038/ejhg.2008.273