A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family
| Autor: | Ning Li, Baimao Zhong, Xiaoguang He, Tian Tian, Keze Ma, Dong Luo, Xiaomei Lu, Chunbao Rao |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Proband Male Pathology medicine.medical_specialty lcsh:QH426-470 Biopsy CRYAB DNA Mutational Analysis Codon Initiator Late onset Neonatal onset 030105 genetics & heredity Asymptomatic Cataract myofibrillar myopathy 03 medical and health sciences Atrophy Fatal Outcome Asian People Muscular Diseases Exome Sequencing Genetics medicine Humans Myopathy Molecular Biology Genetics (clinical) Exome sequencing muscle performance Muscle biopsy Chinese medicine.diagnostic_test business.industry Muscles Homozygote Infant alpha-Crystallin B Chain Original Articles medicine.disease lcsh:Genetics 030104 developmental biology Mutation Original Article medicine.symptom business Cardiomyopathies |
| Zdroj: | Molecular Genetics & Genomic Medicine Molecular Genetics & Genomic Medicine, Vol 7, Iss 8, Pp n/a-n/a (2019) |
| ISSN: | 2324-9269 |
| Popis: | Background Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha‐B crystallin) gene‐related infantile MFM has been suggested. Here, we report an infant in a Chinese family with fatal neonatal‐onset hypertonic MFM with a novel CRYAB homozygous variant (c.3G > A (p.Met1?)). Methods Muscle biopsy indicated that muscle fibers showed a uniformly small diameter, cell atrophy, and visible focal muscle fiber degeneration and necrosis consistent with myogenic myopathy. We performed the whole exome sequencing of pathogenic genes and identified it as MFM. Results The proband presented with profound muscle stiffness, progressive respiratory distress and a concurrent abnormal increase in myocardial enzymogram, and the patient died in the 17th month of life. Muscle biopsy and electron microscopy results were consistent with ultramicroscopic myogenic damage and pathological changes. Mutation analysis of the proband identified a novel rare homozygous mutation in the initiation codon of the CRYAB gene, which was inherited from currently asymptomatic, heterozygous carrier parents, and his heterozygous biological brother is unaffected. Conclusions This article reports one infant with CRYAB‐related neonatal onset MFM with a novel homozygous variant in CRYAB. To our knowledge, this is the first reported case of infantile alpha‐Bcrystallinopathy in the Chinese population. |
| Databáze: | OpenAIRE |
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