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

Molecular Genetics and Metabolism
Ellen GeetsWim Van Hul

Abstract

Prader-Willi syndrome (PWS), caused by a paternal defect on 15q11.2-q13, is the most common form of syndromic obesity. However, patients clinically diagnosed with PWS do not always show this defect on chromosome 15q and are therefore molecularly categorized as Prader Willi like (PWL). Deletions at 6q14.1-q16.3 encompassing MRAP2 and SIM1 were reported in some individuals with a PWL phenotype. In addition, a few mutations in SIM1 and MRAP2 were also previously identified in cohorts of obese individuals. Therefore, we decided to perform copy number variation analysis of the 6q14.1-6q16.3 region followed by mutation analysis of SIM1 and MRAP2 in a PWL cohort. A genome-wide microarray analysis was performed in a group of 109 PWL patients. Next, we screened 94 PWL patients for mutations in SIM1 and MRAP2 using high-resolution melting curve analysis and Sanger sequencing. Additionally, 363 obese children and adolescents were screened for mutations in MRAP2. No gene harboring deletions were identified at the 6q14.1-q16.3 region in the 109 PWL patients. SIM1 mutation analysis resulted in the identification of one very rare nonsynonymous variant p.P352S (rs3734354). Another rare nonsynonymous variant, p.A40S, was detected in the MRAP2 g...Continue Reading

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Citations

Mar 28, 2017·Obesity Reviews : an Official Journal of the International Association for the Study of Obesity·Y KaurD Meyre
Apr 28, 2018·Clinical Genetics·E GeetsW Van Hul
Jun 25, 2020·Eating and Weight Disorders : EWD·Ana Carolina Proença da FonsecaPedro Hernán Cabello
Sep 19, 2020·The Journal of Biological Chemistry·Valerie ChenGlenn L Millhauser
Aug 31, 2021·Endocrine Reviews·Alicia F JuriaansAnita C S Hokken-Koelega

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