Further delineation of the clinical spectrum of White-Sutton syndrome: 12 new individuals and a review of the literature.
Journal
European journal of human genetics : EJHG
ISSN: 1476-5438
Titre abrégé: Eur J Hum Genet
Pays: England
ID NLM: 9302235
Informations de publication
Date de publication:
01 2022
01 2022
Historique:
received:
10
03
2021
accepted:
07
09
2021
revised:
18
06
2021
pubmed:
15
10
2021
medline:
24
3
2022
entrez:
14
10
2021
Statut:
ppublish
Résumé
White-Sutton syndrome (WHSUS) is a neurodevelopmental disorder caused by heterozygous loss-of-function variants in POGZ. Through the Deciphering Developmental Disorders study and clinical testing, we identified 12 individuals from 10 families with pathogenic or likely pathogenic variants in POGZ (eight de novo and two inherited). Most individuals had delayed development and/or intellectual disability. We analyzed the clinical findings in our series and combined it with data from 89 previously reported individuals. The results demonstrate WHSUS is associated with variable developmental delay or intellectual disability, increased risk of obesity, visual defects, craniofacial dysmorphism, sensorineural hearing loss, feeding problems, seizures, and structural brain malformations. Our series includes further individuals with rod-cone dystrophy, cleft lip and palate, congenital diaphragmatic hernia, and duplicated renal drainage system, suggesting these are rare complications of WHSUS. In addition, we describe an individual with a novel, de novo missense variant in POGZ and features of WHSUS. Our work further delineates the phenotypic spectrum of WHSUS highlighting the variable severity of this disorder and the observation of familial pathogenic POGZ variants.
Identifiants
pubmed: 34645992
doi: 10.1038/s41431-021-00961-3
pii: 10.1038/s41431-021-00961-3
pmc: PMC8738758
doi:
Substances chimiques
POGZ protein, human
0
Transposases
EC 2.7.7.-
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
95-100Subventions
Organisme : Wellcome Trust
Pays : United Kingdom
Informations de copyright
© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.
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