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

Author:

Wu Zhi‐Feng1,Lv Kui‐Lin1,Yao Si‐Qi1,Li Zhi1,Cheng Wang1,Zhang Si2,Long Xin‐Hai3,Guo Hong4ORCID,Zhang Yu‐Ping1ORCID

Affiliation:

1. Department of Pediatrics Second Affiliated Hospital of Army Medical University Chongqing China

2. Department of Radiology Xinqiao Hospital, Army Medical University Chongqing China

3. COYOTE Medical Laboratory Beijing China

4. Department of Genetics Basic Medical College, Army Medical University Chongqing China

Abstract

AbstractWe 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 identify associated genetic variants. Bioinformatics analysis was conducted to identify and characterize the pathogenicity of the heterozygous variants. Following long‐term rehabilitation, both siblings showed minimal improvement, and their condition tended to progress. Whole‐exome sequencing revealed two unreported heterozygous variants, NM_025077: c.C553T (p.R185W) and NM_025077: c.G562T (p.V188L), in the TOE1 gene mapped to 1p34.1. Sanger sequencing confirmed that the two variants in the proband and her brother were inherited from their parents. The NM_025077: c.C553T (p.R185W) variant was inherited from the father, and the NM_025077: c.G562T (p.V188L) variant was inherited from the mother. Although the two variants in the TOE1 gene have not been reported previously, they were associated with PCH7 based on integrated analysis. Thus, our report contributes to our knowledge regarding the etiology and phenotype of PCH 7.

Funder

National Natural Science Foundation of China

Natural Science Foundation of Chongqing Municipality

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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