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Wiley, Human Mutation: Variation, Informatics and Disease, 3(35), p. 289-293, 2013

DOI: 10.1002/humu.22482

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A Homozygous Mutation in theTUBGene Associated with Retinal Dystrophy and Obesity

Journal article published in 2013 by Arundhati Dev Borman, Laura R. Pearce, Donna S. Mackay, Kerstin Nagel-Wolfrum, Alice E. Davidson, Robert Henderson, Sumedha Garg, Naushin H. Waseem, Andrew R. Webster, Vincent Plagnol ORCID, Uwe Wolfrum, I. Sadaf Farooqi ORCID, Anthony T. Moore
This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

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 siblings with retinal dystrophy and resulted in mislocalization of the truncated protein. In contrast to known forms of retinal dystrophy, including those caused by mutations in the tubby-like protein TULP-1, loss of function of TUB in the proband and two affected family members was associated with early-onset obesity, consistent with an additional role for TUB in energy homeostasis.