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Am J Med Genet A ; 188(10): 3096-3099, 2022 10.
Artigo em Inglês | MEDLINE | ID: mdl-35915932

RESUMO

Autosomal recessive osteopetrosis (ARO) is a group of disease characterized by osteoclast dysfunction inhibiting bone resorption and bone turnover, with TCIRG1-associated ARO being more common leading to autosomal recessive infantile malignant osteopetrosis (OPTB1, MIM entry number # 259700). While most patients with TCIRG1-associated osteopetrosis present a malignant clinical course and shortened lifespan, a few cases of non-malignant TCIRG1-associated osteopetrosis have been reported. 24-year-old 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 cm 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 TCIRG1 (c.1194dup, p.Gly399ArgTer and c.334G>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-associated osteopetrosis reported in Vietnam and one of the few cases of nonmalignant TCIRG1-associated osteopetrosis, in which detailed clinical and genetic work-up were performed.


Assuntos
Osteopetrose , ATPases Vacuolares Próton-Translocadoras , Adulto , Feminino , Humanos , Mutação , Osteopetrose/diagnóstico , Osteopetrose/genética , Irmãos , ATPases Vacuolares Próton-Translocadoras/genética , Vietnã , Adulto Jovem
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