The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.

ABSTRACT:

Background

Intellectual disability (ID) is a con neurodevelopmental disorder in children. The genetic etiology of ID is complex, but more subtypes are defined due to the broad application of next-generation sequencing.

Methods

Whole-exome sequencing (WES) and Sanger sequencing was applied in a family with ID.

Results

We report a Chinese 7.5-year-old boy, born to non-consanguineous parents. He showed severe intellectual disability, seizures and autistic features. Two previously unreported variants in MBOAT7, c.669C>G (p.(Tyr223*)) and c.1095C>G (p.(Ser365Arg)) were identified by trio-WES. His mother is a heterozygous carrier of the c.1095C>G variant. The c.669C>G variant is a de novo variant which was undetected in his parents. By construction of the full-length cDNA o

SUBMITTER: Li H 

PROVIDER: S-EPMC10844841 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature