A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
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ABSTRACT:
SUBMITTER: Borman AD
PROVIDER: S-EPMC4284018 | biostudies-literature | 2014 Mar
REPOSITORIES: biostudies-literature
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A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.
Borman Arundhati Dev AD Pearce Laura R LR Mackay Donna S DS Nagel-Wolfrum Kerstin K Davidson Alice E AE Henderson Robert R Garg Sumedha S Waseem Naushin H NH Webster Andrew R AR Plagnol Vincent V Wolfrum Uwe U Farooqi I Sadaf IS Moore Anthony T AT
Human mutation 20131220 3
Inherited retinal dystrophies are a major cause of childhood blindness. Here, we describe the identification of a homozygous frameshift mutation (c.1194_1195delAG, p.Arg398Serfs*9) in TUB in a child from a consanguineous UK Caucasian family investigated using autozygosity mapping and whole-exome sequencing. The proband presented with obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy. The mutation was also found in two of the proband's si ...[more]
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