The first Chinese intellectual developmental disorder, autosomal recessive 57 patient with two novel MBOAT7 variants.
Mol Genet Genomic Med
; 12(2): e2391, 2024 Feb.
Article
em En
| MEDLINE
| ID: mdl-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 (OMIM617188) with two unreported MBOAT7 variants.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Neurodesenvolvimento
/
Deficiência Intelectual
Limite:
Child
/
Humans
/
Male
País/Região como assunto:
Asia
Idioma:
En
Revista:
Mol Genet Genomic Med
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
China
País de publicação:
Estados Unidos