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Case Report: Prenatal Recurrent Microcephaly and Corpus Callosum Abnormalities in a Chinese Family with Novel Biallelic SASS6 Mutations.

Fetal diagnosis and therapy - 1 Jan 2023

Wah Yi Man Isabella, Cao Ye, Law Chun Yiu, Choy Kwong Wai, Leung Tak Yeung, Kwan Hoi Wan Angel, Poon Liona C

Abstract excerpt

INTRODUCTION: Primary microcephaly (MCPH) is not an uncommon disorder with multiple etiologies. There are a growing number of MCPH-related genes discovered due to the extensive application of whole-exome sequencing (WES) in clinical and research settings. Biallelic mutations in the SASS6 gene cause an extremely rare MCPH, type 14. To date, only two families with SASS6 gene-related microcephaly have been reported....

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PMID: 36739862
DOI: 10.1159/000529504

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