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Clinical and genetic characterization of a Chinese family with pontocerebellar hypoplasia type 7.

American journal of medical genetics. Part A - 1 Jan 2024

Wu Zhi-Feng, Lv Kui-Lin, Yao Si-Qi, Li Zhi, Cheng Wang, Zhang Si, Long Xin-Hai, Guo Hong, Zhang Yu-Ping

Abstract excerpt

We report compound heterozygous variants in TOE1 in siblings of Chinese origin who presented with dyskinesia and intellectual disabilities. Our report provides further information regarding the etiology and pathogenesis of pontocerebellar hypoplasia type 7 syndrome (PCH7). Clinical manifestations were obtained, and genomic DNA was collected from family members. Whole-exome and Sanger sequencing were performed to...

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PMID: 37608778
DOI: 10.1002/ajmg.a.63371

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