Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 377-381, 2017.
Article
em Zh
| WPRIM
| ID: wpr-335122
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WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To detect potential mutation of the TCIRG1 gene in a boy with infantile malignant osteopetrosis.</p><p><b>METHODS</b>Target sequence capture and next-generation sequencing were applied for the proband and his parents to identify the causative mutation, and Sanger sequencing was used to verify the suspected mutation.</p><p><b>RESULTS</b>The proband manifested at 4 months of age with symptoms including anemia, thrombocytopenia, hepatosplenomegaly, and cephalus quadratus. X-ray revealed generalized increased bone density. A novel compound heterozygous mutation, c.796G to T (p.E266X) and c.1372G to A (p.G458S), were identified in the boy. His father and grandmother also carried the c.796G to T (p.E266X) mutation, and his mother carried the c.1372G to A (p.G458S) mutation. Neither mutation was found in the PubMed and ClinVar databases.</p><p><b>CONCLUSION</b>The novel compound heterozygous mutation c.796G to T (p.E266X) and c.1372G to A (p.G458S) probably underlies the disease in the proband. Above results may enrich the mutation spectrum of the TCIRG1 gene and provide new evidence for the molecular basis of infantile malignant osteopetrosis.</p>
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Índice:
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Assunto principal:
Osteopetrose
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Linhagem
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Dados de Sequência Molecular
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Sequência de Bases
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ATPases Vacuolares Próton-Translocadoras
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Povo Asiático
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Genética
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Doenças do Recém-Nascido
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Mutação
Limite:
Adult
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Humans
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Infant
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Male
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Newborn
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2017
Tipo de documento:
Article