Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.

Ellen Geets,Doreen Zegers,Sigri Beckers,An Verrijken,Guy Massa,Kim Van Hoorenbeeck,Stijn L Verhulst,Luc Van Gaal,Wim Van Hul

Molecular Genetics and Metabolism（2016）

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摘要

•First genome-wide microarray analysis of 6q14.1–6q16.3 in 109 PWL patients•Mutation analysis of SIM1 and MRAP2 in 94 PWL patients•No gene harboring deletions were identified in the 6q14.1–6q16.3 region.•Identification of first rare MRAP2 variation, p.A40S, in a PWL patient•A not previously reported variant, p.P352S, was identified in SIM1 in a PWL patient.

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关键词

Prader Willi like,Obesity,MRAP2,SIM1,Microarray,Mutation analysis

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