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
in Chinese
| WPRIM
| ID: wpr-335122
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>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Osteopetrosis
/
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
Vacuolar Proton-Translocating ATPases
/
Asian People
/
Genetics
/
Infant, Newborn, Diseases
/
Mutation
Limits:
Adult
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2017
Type:
Article
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