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Article

Whole exome sequencing identifies RAI1 mutation in a morbidly obese child diagnosed with ROHHAD syndrome.

The Journal of clinical endocrinology and metabolism - 1 May 2015

Thaker Vidhu V, Esteves Kristyn M, Towne Meghan C, Brownstein Catherine A, James Philip M, Crowley Laura, Hirschhorn Joel N, Elsea Sarah H, Beggs Alan H, Picker Jonathan, Agrawal Pankaj B

Abstract excerpt

CONTEXT: The current obesity epidemic is attributed to complex interactions between genetic and environmental factors. However, a limited number of cases, especially those with early-onset severe obesity, are linked to single gene defects. Rapid-onset obesity with hypothalamic dysfunction, hypoventilation and autonomic dysregulation (ROHHAD) is one of the syndromes that presents with abrupt-onset extreme weight...

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Source

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Identifiers

PMID: 25781356
DOI: 10.1210/jc.2014-4215
PMCID: PMC4422892

Genes

RAI1
SMS

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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