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

Authors :
Barclay SF
Rand CM
Nguyen L
Wilson RJA
Wevrick R
Gibson WT
Bech-Hansen NT
Weese-Mayer DE
Source :
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 20; Vol. 13 (1), pp. 124. Date of Electronic Publication: 2018 Jul 20.
Publication Year :
2018

Abstract

Background: 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.<br />Results: 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 in ROHHAD probands.<br />Conclusions: ROHHAD and PWS are clinically distinct conditions, and do not share a genetic etiology. Our detailed clinical comparison and genetic analyses should assist physicians in timely distinction between the two disorders in obese children. Of particular importance, ROHHAD patients will have had a normal and healthy first year of life; something that is never seen in infants with PWS.

Details

Language :
English
ISSN :
1750-1172
Volume :
13
Issue :
1
Database :
MEDLINE
Journal :
Orphanet journal of rare diseases
Publication Type :
Academic Journal
Accession number :
30029683
Full Text :
https://doi.org/10.1186/s13023-018-0860-0