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

Abstract

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.

Keywords

• compound heterozygous variant
• intellectual developmental disability
• MBOAT7
• pathogenicity
• whole exome sequencing