Supplementary Material for: Multicentric Carpotarsal Osteolysis Syndrome in a Mother and Daughter with a <b><i>MAFB</i></b> Missense Variant and Natural History of the Disease

Multicentric carpotarsal osteolysis syndrome (MCTO; MIM #166300) is a rare skeletal disorder characterized by osteolysis affecting particularly the carpal, metacarpal, and tarsal bones, although other bones might be involved. MCTO is an autosomal dominant disease caused by heterozygous variants in the <i>MAFB</i> gene, frequently misdiagnosed as juvenile rheumatoid arthritis due to similar clinical manifestations. This study reports the first Brazilian family diagnosed with MCTO with progressive osteolysis of the carpal and tarsal bones, presenting a c.161C&gt;T (p.Ser54Leu) heterozygous variant in the <i>MAFB</i> gene, describing the clinical, radiological, and molecular findings, compared with literature data, and discussing the different clinical and molecular diagnosis, as well as the natural history of the disease. Since MCTO is a disorder with progressive symptoms, an early diagnosis is important to avoid unnecessary investigations and treatments and to provide the proper follow-up.

多中心性腕跗骨溶解综合征（Multicentric carpotarsal osteolysis syndrome, MCTO；MIM #166300）是一种罕见骨骼疾病，以骨溶解为核心病理特征，尤其累及腕骨、掌骨与跗骨，亦可累及其他骨骼。该疾病为常染色体显性遗传病，由MAFB基因的杂合变异所致，因其临床表型与幼年类风湿关节炎相似，常被误诊。本研究报道了首个确诊为MCTO的巴西家族，该家族患者存在腕骨与跗骨进行性骨溶解，且携带MAFB基因c.161C>T（p.Ser54Leu）杂合变异；研究详细描述了该家族的临床、影像学及分子生物学特征，并与现有文献数据进行比对，同时探讨了该疾病的不同临床与分子诊断策略，以及其自然病程。鉴于MCTO为进行性疾病，早期诊断可避免不必要的检查与治疗，并为患者提供规范的随访管理，具有重要临床意义。

搜集汇总

背景与挑战

背景概述

该数据集是研究多中心腕跗骨溶解综合征（MCTO）的补充材料，报告了首个巴西家庭病例，涉及MAFB基因c.161C>T杂合变异，并包含临床、放射学和分子发现，旨在帮助早期诊断和避免误诊。数据集以.doc文件形式提供，发布于2021年，适用于医学研究领域。