Seven Novel Variants of Weiss-Kruszka Syndrome and Phenotype Expansion.
ZNF472
GestaltMatcher
Weiss‐Kruszka syndrome
phenotypic heterogeneity
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
17 Sep 2024
17 Sep 2024
Historique:
revised:
09
08
2024
received:
06
06
2024
accepted:
10
08
2024
medline:
17
9
2024
pubmed:
17
9
2024
entrez:
17
9
2024
Statut:
aheadofprint
Résumé
Weiss-Kruszka syndrome (WKS) is a rare genetic disorder characterized by metopic ridging, ptosis, arched eyebrows, down slanting palpebral fissures, abnormalities in the corpus callosum, cardiac malformations, and variable neurodevelopmental delay. To date, 32 individuals with a diagnosis of WKS have been reported in the literature. The syndrome is caused by a heterozygous pathogenic variant in the ZNF462 gene or a deletion of the 9p31.2 region involving ZNF462. There is significant phenotypic heterogeneity and intrafamilial variability among these patients. Our study reviewed nine patients from seven unrelated families and identified seven novel heterozygous ZNF462 variants through exome sequencing. GestaltMatcher analysis of our cohort's facial images, alongside previously published images of ZNF462 patients, demonstrated a high degree of facial similarity. Further longitudinal research is needed to delineate this rare condition's long-term health implications and adult-onset features.
Identifiants
pubmed: 39287049
doi: 10.1002/ajmg.a.63856
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63856Informations de copyright
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
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