Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis | Zendy

Nana Okamoto | Zendy; Tomohiro Kohmoto | Zendy; Takuya Naruto | Zendy; Kiyoshi Masuda | Zendy; Takahide Komori | Zendy; Issei Imoto | Zendy

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Novel CLCN7 compound heterozygous mutations in intermediate autosomal recessive osteopetrosis

Author(s) -

Nana Okamoto,

Tomohiro Kohmoto,

Takuya Naruto,

Kiyoshi Masuda,

Takahide Komori,

Issei Imoto

Publication year - 2017

Publication title -

human genome variation

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.796

H-Index - 14

ISSN - 2054-345X

DOI - 10.1038/hgv.2017.36

Subject(s) - osteopetrosis , compound heterozygosity , missense mutation , exome sequencing , genetics , mutation , gene , biology , heterozygote advantage , allele , immunology

Osteopetrosis is a heritable disorder of the skeleton that is characterized by increased bone density on radiographs caused by defects in osteoclast formation and function. Mutations in >10 genes are identified as causative for this clinically and genetically heterogeneous disease in humans. We report two novel missense variations in a compound heterozygous state in the CLCN7 gene, detected through targeted exome sequencing, in a 15-year-old Japanese female with intermediate autosomal recessive osteopetrosis.

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