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Article

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 - 1 Mar 2016

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

Abstract excerpt

BACKGROUND: 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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26795956
DOI: 10.1016/j.ymgme.2016.01.003

Genes

MRAP2
SIM1

Variants

rs3734354

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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