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Identification of a novel mutation of MBD5 gene in a pedigree affected with autosomal dominant mental retardation type 1 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics ; (6): 260-263, 2021.
Article in Chinese | WPRIM | ID: wpr-879566
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child with mental and motor retardation, language impairment, facial dysmorphism and epilepsy.@*METHODS@#Whole exome sequencing was carried out to detect pathogenic variant in the proband, and candidate variant was selected based on his phenotype. Sanger sequencing was used to verify the variant in the proband, his parents and other family members.@*RESULTS@#The proband was found to carry a frameshifting mutation of MBD5 gene, namely c.2217delT (p.F739Lfs*6), which was inherited from his mother and unreported previously. Sanger sequencing confirmed that his brother carried the same mutation with a similar phenotype. His mother also had poor language expression when she was young, in addition with poor academic performance, though she could do some housework and had no history of convulsion.@*CONCLUSION@#A novel pathogenic variant of the MBD5 gene was discovered, which has enriched the mutational spectrum of the MBD5 gene. Above discovery has enabled genetic counseling and prenatal diagnosis for the family.
Subject(s)
Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / DNA-Binding Proteins / Exome Sequencing / Intellectual Disability / Mutation Type of study: Diagnostic study / Prognostic study Limits: Child / Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Pedigree / Phenotype / DNA-Binding Proteins / Exome Sequencing / Intellectual Disability / Mutation Type of study: Diagnostic study / Prognostic study Limits: Child / Female / Humans / Male / Pregnancy Language: Chinese Journal: Chinese Journal of Medical Genetics Year: 2021 Type: Article