ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Orphanet Journal of Rare Diseases
Sarah F BarclayDebra E Weese-Mayer

Abstract

Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare and potentially fatal pediatric disorder, the cause of which is presently unknown. ROHHAD is often compared to Prader-Willi syndrome (PWS) because both share childhood obesity as one of their most prominent and recognizable signs, and because other symptoms such as hypoventilation and autonomic dysfunction are seen in both. These phenotypic similarities suggest they might be etiologically related conditions. We performed an in-depth clinical comparison of the phenotypes of ROHHAD and PWS and used NGS and Sanger sequencing to analyze the coding regions of genes in the PWS region among seven ROHHAD probands. Detailed clinical comparison of ROHHAD and PWS patients revealed many important differences between the phenotypes. In particular, we highlight the fact that the areas of apparent overlap (childhood-onset obesity, hypoventilation, autonomic dysfunction) actually differ in fundamental ways, including different forms and severity of hypoventilation, different rates of obesity onset, and different manifestations of autonomic dysfunction. We did not detect any disease-causing mutations within PWS candidate genes...Continue Reading

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Citations

May 15, 2020·The Journal of Clinical Endocrinology and Metabolism·Julie HarvengtVincent Bours
Jul 25, 2019·Clinical Diabetes and Endocrinology·Abdel Wahab Jalal EldinElif A Oral
Oct 9, 2020·Journal of Sleep Research·Mariam M Ischander, Robert D Lloyd
Sep 18, 2021·Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine·Radhika GhoshAjay S Kasi

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

ANNOVAR
SoftGenetics )
Lifescope Genomic Analysis
Mutation Surveyor (
SOLiD
Ensembl
Ensembl GRCh37
Genome Analysis Toolkit ( GATK ) Haplotype Caller
ROHHAD

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