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A homozygous mutation in the TUB gene associated with retinal dystrophy and obesity.



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Borman, Arundhati Dev 
Pearce, Laura R 
Mackay, Donna S 
Nagel-Wolfrum, Kerstin 
Davidson, Alice E 


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.



TUB, cilia, obesity, retinal dystrophy, tubby, Adaptor Proteins, Signal Transducing, Child, Chromosome Mapping, Consanguinity, Eye Proteins, Female, Frameshift Mutation, Genes, Recessive, Homeostasis, Homozygote, Humans, Male, Obesity, Pedigree, Proteins, Retinitis Pigmentosa, United Kingdom, White People

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Hum Mutat

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Hindawi Limited
Wellcome Trust (096106/Z/11/Z)
Wellcome Trust (098497/Z/12/Z)
Medical Research Council (G0600717)
Medical Research Council (MC_UU_12012/5)
Medical Research Council (MC_PC_12012)
Medical Research Council (G0600717/1)
Contract grant sponsors: Wellcome Trust (077016/Z/05/Z, 098497/Z/12/Z, 096106/Z/11/Z); National Institute for Health Research (Moorfields Biomedical Research Centre and Cambridge Biomedical Research Centre); Fight for Sight; Foundation Fighting Blindness (USA); the Rosetrees Trust; European Community (FP7/2009/241955 “SYSCILIA”); The FAUN Foundation (Germany).