{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T14:23:20Z","timestamp":1747146200645,"version":"3.40.5"},"reference-count":9,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2022,8,1]],"date-time":"2022-08-01T00:00:00Z","timestamp":1659312000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1\u2010associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1\u2010associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non\u2010malignant TCIRG1\u2010associated osteopetrosis have been reported. 24\u2010year\u2010old female patient came to us with limp gait, hip pain in both sides, and severe stiffness. She had suffered many fractures, bilateral hip osteoarthritis, right leg was 2\u00a0cm shorter compared with left leg. Whole Exome Sequencing was conducted, the result and subsequent Sanger's sequencing shown the patient had a compound heterozygous genotype at <jats:italic>TCIRG1<\/jats:italic> (c.1194dup, p.Gly399ArgTer and c.334G&gt;A, p.Gly112Arg), these two variants found were not previously reported. Sanger's sequencing revealed two other siblings whom suffer the same disorder had similar genotype to the proband; the parents were found to be heterozygous. This is the first case of TCIRG1\u2010associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1\u2010associated osteopetrosis, in which detailed clinical and genetic work\u2010up were performed.<\/jats:p>","DOI":"10.1002\/ajmg.a.62897","type":"journal-article","created":{"date-parts":[[2022,8,2]],"date-time":"2022-08-02T06:39:39Z","timestamp":1659422379000},"page":"3096-3099","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Case report of mild <scp>TCIRG1\u2010associated<\/scp> autosomal recessive osteopetrosis in Vietnam"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6016-3061","authenticated-orcid":false,"given":"Long Hoang","family":"Luong","sequence":"first","affiliation":[{"name":"National E Hospital  Hanoi 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Pham","family":"Son","sequence":"additional","affiliation":[{"name":"National E Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tien Dang","family":"Tran","sequence":"additional","affiliation":[{"name":"National E Hospital  Hanoi Vietnam"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7129-0525","authenticated-orcid":false,"given":"Tran Thuy","family":"Nguyen","sequence":"additional","affiliation":[{"name":"VNU University of Medicine and Pharmacy  Hanoi 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