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Analysis of genetic variants and clinical manifestations of two children with Kabuki syndrome / 中华医学遗传学杂志
Article de Zh | WPRIM | ID: wpr-981831
Bibliothèque responsable: WPRO
ABSTRACT
OBJECTIVE@#To report on two children with Kabuki syndrome due to variants of the KMT2D gene and summarize their clinical and genetic characteristics.@*METHODS@#Two children who had presented at the Ningbo Women and Children's Hospital respectively on August 19 and November 10, 2021 were selected as the study subjects. Clinical data were collected. Both children were subjected to whole exome sequencing (WES), and candidate variants were validated by Sanger sequencing.@*RESULTS@#Both children had featured motor and language developmental delay, facial dysmorphism and mental retardation. Genetic testing revealed that both had harbored de novo heterozygous variants of the KMT2D gene, namely c.10205del (p.Leu3402Argfs*3) and c.5104C>T (p.Arg1702*), both of which were rated as pathogenic variants based on the guidelines from the American College of Medical Genetics and Genomics (ACMG).@*CONCLUSION@#The c.10205del (p.Leu3402Argfs*3) and c.5104C>T (p.Arg1702*) variants of the KMT2D gene probably underlay the pathogenesis in these two children. Above finding has not only provided a basis for their diagnosis and genetic counseling, but also enriched the spectrum of KMT2D gene variants.
Sujet(s)
Texte intégral: 1 Indice: WPRIM Sujet Principal: Malformations multiples / Dépistage génétique / Conseil génétique / Déficience intellectuelle / Mutation Limites du sujet: Child / Female / Humans langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2023 Type: Article
Texte intégral: 1 Indice: WPRIM Sujet Principal: Malformations multiples / Dépistage génétique / Conseil génétique / Déficience intellectuelle / Mutation Limites du sujet: Child / Female / Humans langue: Zh Texte intégral: Zhonghua Yi Xue Yi Chuan Xue Za Zhi Année: 2023 Type: Article