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  • Title: The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
    Author: Li H, Qi Z, Xie L, Hao C, Li W.
    Journal: Mol Genet Genomic Med; 2024 Feb; 12(2):e2391. PubMed ID: 38407511.
    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 of the patient's MBOAT7, we verified that these two variants were trans-compound heterozygous variants, which support the genetic etiology of this patient. CONCLUSION: This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported MBOAT7 variants.
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