Whole-exome sequencing detected a novel AIFM1 variant in a Han-Chinese family with Cowchock syndrome

Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of...

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Bibliographic Details
Published in:Hereditas 2023-05, Vol.160 (1), p.22-22, Article 22
Main Authors: Wang, Chenyu, Lin, Zhaojing, Yuan, ZhuangZhuang, Tang, Tieyu, Fan, Liangliang, Liu, Yihui, Wu, Xuan
Format: Article
Language:English
Subjects:
AIFM1
Amino acids
Apoptosis
Apoptosis Inducing Factor - genetics
Apoptosis-inducing factor
Atrophy
Audiometry
Brief Report
Cerebellar ataxia
Cerebellum
Charcot-Marie-Tooth disease
Charcot-Marie-Tooth Disease - genetics
CMTX4
Disease
East Asian People
Embryos
Exome Sequencing
Families & family life
Genetic counseling
Genetic screening
Hospitals
Humans
In vitro fertilization
Informed consent
Intellectual disabilities
Medical records
Mitochondria
Molecular diagnosis
Muscle strength
Mutation
Pedigree
Peripheral neuropathy
Phosphorylation
Proteins
Quality control
Review boards
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Summary:Charcot-Marie-Tooth disease(CMT) is a hereditary peripheral neuropathy, characterized by progressive distal hypoesthesia and amyotrophia. CMT is characterized by an X- linked recessive inheritance pattern. The apoptosis-inducing factor mitochondria associated-1 (AIFM1) is the main pathogenic gene of the X-linked recessive Charcot-Marie-Tooth disease-4 with or without cerebellar ataxia (CMTX4), also known as Cowchock syndrome. In this study, we enrolled a family with CMTX from the southeast region of China and identified a novel AIFM1 variant (NM_004208.3: c.931C>G; p.L311V) using whole exon sequencing technology. The results of our study may also be useful for genetic counseling, embryo screening of in vitro fertilization embryos, and prenatal genetic diagnosis.
ISSN:1601-5223
0018-0661
1601-5223
DOI:10.1186/s41065-023-00282-z