A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.

Szczegóły
Abstrakt

Tytuł:: A Novel Frameshift Mutation in KAT6A Is Associated with Pancraniosynostosis.
Autorzy:: Marji FP; Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Hall JA; Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Anstadt E; Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Madan-Khetarpal S; Department of Genetics, Center for Clinical Genetics and Genomics, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Goldstein JA; Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Losee JE; Department of Plastic Surgery and Reconstructive Surgery, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Źródło:: Journal of pediatric genetics [J Pediatr Genet] 2021 Mar; Vol. 10 (1), pp. 81-84. Date of Electronic Publication: 2020 Apr 25.
Typ publikacji:: Case Reports
Język:: English
Imprint Name(s):: Publication: 2015- : Stuttgart : Thieme
Original Publication: Amsterdam : IOS Press
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Contributed Indexing:: Keywords: KAT6A syndrome; pancraniosynostosis; whole exome sequencing
Entry Date(s):: Date Created: 20210208 Latest Revision: 20220302
Update Code:: 20240104
PubMed Central ID:: PMC7853917
DOI:: 10.1055/s-0040-1710330
PMID:: 33552646
: Raport

De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual disability syndrome, with features including speech delay, cardiac anomalies, craniofacial dysmorphisms, and craniosynostosis. Here, we reported a 16-year-old girl with a novel pathogenic variant of the KAT6A gene. She is the first case to possess pancraniosynostosis, a rare suture fusion pattern, affecting all her major cranial sutures. The diagnosis of KAT6A syndrome is established via recognition of its inherent phenotypic features and the utilization of whole exome sequencing. Thorough craniofacial evaluation is imperative, craniosynostosis may require operative intervention, the delay of which may be detrimental.
Competing Interests: Conflict of Interest None declared.
(Thieme. All rights reserved.)

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