一份关于5个患有多中心腕跗骨溶解综合征的印度家庭的报告。
A report of 5 Indian families with multicentric carpotarsal osteolysis syndrome.
作者信息
Gupta Neerja, Chakraborty Soumalya, Chowdhury Madhumita Roy, Puri Ratna Dua, Jana Manisha, Kumari Indu, Bhatia Sameer, Kabra Madhulika
机构信息
Division of Genetics, Department of Pediatrics, AIIMS, New Delhi, India.
Institute of Genomics, Sir Ganga Ram Hospital, New Delhi, India.
出版信息
Eur J Med Genet. 2023 Sep;66(9):104822. doi: 10.1016/j.ejmg.2023.104822. Epub 2023 Aug 17.
Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare autosomal dominant skeletal dysplasia characterised by swelling and restriction of movement in the wrist and ankle joints, as well as osteolysis of the carpal and tarsal bones, that can be misdiagnosed as juvenile idiopathic arthritis. We describe five Indian families with heterozygous nonrecurrent missense pathogenic variants in exon 1 of MAF bZIP transcription factor B (MAFB).
多中心腕跗骨溶解综合征（MCTO）是一种罕见的常染色体显性遗传性骨骼发育不良疾病，其特征为腕关节和踝关节肿胀及活动受限，以及腕骨和跗骨的骨质溶解，该病可能被误诊为幼年特发性关节炎。我们描述了五个印度家庭，这些家庭的MAF bZIP转录因子B（MAFB）第1外显子存在杂合性非复发性错义致病变异。
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