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ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison.
- 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.
- Subjects :
- Child
Child, Preschool
Early Diagnosis
Female
Humans
Hypothalamus metabolism
Hypothalamus pathology
Male
Obesity Hypoventilation Syndrome genetics
Pediatric Obesity genetics
Prader-Willi Syndrome genetics
Obesity Hypoventilation Syndrome diagnosis
Pediatric Obesity diagnosis
Prader-Willi Syndrome diagnosis
Subjects
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