DOI 10.3760/cma.j.cn511374-20220610-00399

Медицинская библиотека · Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2023

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].

Yuan Lin, Zhao Peng, Sheng Qianqian, Mu Weihang, Xu Gang, Liu Jian

Клинический случайАннотация на английскомСтатьяПеревод в очереди

Аннотация

OBJECTIVE

To analyze the clinical phenotype and genetic basis of a child with Alazami syndrome (AS).

METHODS

A child who presented at Tianjin Children's Hospital on June 13, 2021 was selected as the study subject. The child was subjected to whole exome sequencing (WES), and candidate variants were verified by Sanger sequencing.

RESULTS

WES revealed that the child has harbored two frameshifting variants of the LARP7 gene, namely c.429_430delAG (p.Arg143Serfs*17) and c.1056_1057delCT (p.Leu353Glufs*7), which were verified by Sanger sequencing to be respectively inherited from his father and mother.

CONCLUSION

The compound heterozygous variants of the LARP7 gene probably underlay the pathogenesis in this child.

Для цитирования: Yuan Lin, Zhao Peng, Sheng Qianqian, Mu Weihang, Xu Gang, Liu Jian. [Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 2023. DOI: 10.3760/cma.j.cn511374-20220610-00399.

Предметные рубрики MeSH

Female Humans Dwarfism Exome Sequencing Intellectual Disability Microcephaly Mothers Mutation Male Child

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