Extending the phenotype of DeSanto‐Shinawi syndrome: A case report and literature review

Autor:	Ivan F M Lo, Stephanie Ho, HM Luk
Rok vydání:	2021
Předmět:	Proband Pediatrics medicine.medical_specialty business.industry media_common.quotation_subject Nonsense Lipoma medicine.disease Duplex Kidney Epilepsy Neurodevelopmental disorder Neonatal hypotonia Intellectual disability Genetics medicine business Genetics (clinical) media_common
Zdroj:	American Journal of Medical Genetics Part A. 188:984-990
ISSN:	1552-4833 1552-4825
Popis:	DeSanto-Shinawi syndrome (DESSH, OMIM #616708) is a rare autosomal dominant neurodevelopmental disorder caused by loss-of-function variants in the WAC gene. Affected individuals are characterized by neonatal hypotonia, developmental delay, intellectual disability, behavioral problems, and dysmorphism. Epilepsy is present in some of the patients with DESSH. By far, less than 30 affected individuals have been reported worldwide. Herein, we report a 9-year-old Chinese girl with molecularly substantiated DESSH with a de novo nonsense c. 1648C>T p.(Arg550*) variant identified in the WAC gene. Aside from developmental delay and the characteristic facial gestalt, our proband also exhibited tethered cord syndrome due to filar lipoma and left duplex kidney complicated with hydronephrosis, features not observed in any of the previously reported individuals with DESSH.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::acab82b9421b0cb6f5a3d8beb38cf240 https://doi.org/10.1002/ajmg.a.62571 Zobrazit plný text záznamu Plný text