Abstract:
:Osteopetrosis is a monogenic condition with various inheritance patterns, including autosomal dominant, autosomal recessive and X‑linked. Several disease‑causing genes have been identified and three distinguished types of osteopetrosis have been reported. In the present study, a family with osteopetrosis was investigated. Two novel mutations in chloride voltage‑gated channel 7 (CLCN7) and T cell immune regulator 1 (TCIRG1) were identified by exome sequencing, Sanger sequencing and microsatellite marker analysis. The CLCN7 mutation occurred in amino acid R286, the same position as previously reported. The TCIRG1 mutation occurred on a splicing site of exon 15, thereby leading to a truncated transcript. These two mutations were undetected in 496 ethnic‑matched controls. To the best of our knowledge, this is the first report of human osteopetrosis involving digenic inheritance in a single family, which has important implications for decisions on clinical therapeutic regimen, prognosis evaluation and antenatal diagnosis.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Yang Y,Ye W,Guo J,Zhao L,Tu M,Zheng Y,Li Ldoi
10.3892/mmr.2018.9648subject
Has Abstractpub_date
2019-01-01 00:00:00pages
595-600issue
1eissn
1791-2997issn
1791-3004journal_volume
19pub_type
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