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Further delineation of the clinical spectrum of White–Sutton syndrome: 12 new individuals and a review of the literature
- Source :
- Eur J Hum Genet
- Publication Year :
- 2021
- Publisher :
- Springer Science and Business Media LLC, 2021.
-
Abstract
- 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.
- Subjects :
- Adult
Male
Pediatrics
medicine.medical_specialty
Adolescent
Developmental Disabilities
Mutation, Missense
Transposases
Article
Neurodevelopmental disorder
Intellectual Disability
Intellectual disability
Genetics
Humans
Medicine
Missense mutation
Abnormalities, Multiple
Child
Genetics (clinical)
business.industry
Infant
Dystrophy
Congenital diaphragmatic hernia
Syndrome
medicine.disease
Phenotype
Pedigree
White (mutation)
Child, Preschool
Female
Sensorineural hearing loss
business
Subjects
Details
- ISSN :
- 14765438 and 10184813
- Volume :
- 30
- Database :
- OpenAIRE
- Journal :
- European Journal of Human Genetics
- Accession number :
- edsair.doi.dedup.....d3017ac077ee8f4b334fd4e533bd7db4