What is it about?
A 10-year-old developmentally delayed boy and a fetus with brain abnormalities detected on ultrasonography at 26+6 weeks of gestation both presented a compound heterozygous TMEM67 mutations identified on whole-exome sequencing.
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Why is it important?
Novel TMEM67 mutations added to the medical literature. The study also provides evidence for patient management for Joubert syndrome in Viet Nam when no approaches for genetic testing were actually provided.
Perspectives
This is a difficult Vietnamese case where the first child was under-diagnosed (the diagnosis of cerebral palsy was made). This study outlines the role of molecular analysis in patients with multiple congenital malformations.
Dr Minh-Tuan HUYNH
Universite de Nantes
Read the Original
This page is a summary of: Novel compound heterozygous TMEM67 variants in a Vietnamese family with Joubert syndrome: a case report, BMC Medical Genetics, January 2020, Springer Science + Business Media,
DOI: 10.1186/s12881-020-0962-0.
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