Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

doi:10.1016/j.ajhg.2015.12.014

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Article

Small 6q16.1 Deletions Encompassing POU3F2 Cause Susceptibility to Obesity and Variable Developmental Delay with Intellectual Disability.

American journal of human genetics - 4 Feb 2016

Kasher Paul R, Schertz Katherine E, Thomas Megan, Jackson Adam, Annunziata Silvia, Ballesta-Martinez María J, Campeau Philippe M, Clayton Peter E, Eaton Jennifer L, Granata Tiziana, Guillén-Navarro Encarna, Hernando Cristina, Laverriere Caroline E, Liedén Agne, Villa-Marcos Olaya, McEntagart Meriel, Nordgren Ann, Pantaleoni Chiara, Pebrel-Richard Céline, Sarret Catherine, Sciacca Francesca L, Wright Ronnie, Kerr Bronwyn, Glasgow Eric, Banka Siddharth

Abstract excerpt

Genetic studies of intellectual disability and identification of monogenic causes of obesity in humans have made immense contribution toward the understanding of the brain and control of body mass. The leptin > melanocortin > SIM1 pathway is dysregulated in multiple monogenic human obesity syndromes but its downstream targets are still unknown. In ten individuals from six families, with overlapping 6q16.1...

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Identifiers

PMID: 26833329
DOI: 10.1016/j.ajhg.2015.12.014
PMCID: PMC4746363

Genes

SIM1

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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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