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Martin Schwarz^1,2, Miroslav Fišer², Lenka Šodková³

¹Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University, Prague, Czech Republic.

Clinical genetics

|August 30, 2025

概括

耳鼻腔数字谱系障碍 (OPDSD) 是由FLNA基因变异引起的罕见X相关疾病. 这些病例突显了各种各样的症状,并扩大了已知的基因突变,强调了早期诊断和护理的必要性.

科学领域:

遗传学
医学遗传学
骨发育不良症

背景情况:

耳鼻腔数字频谱疾病 (OPDSD),包括OPD1,OPD2和口,是罕见的X相关疾病.
这些疾病是FLNA基因变异的结果,存在各种表型,从轻微的骨问题到严重的多系统形.

研究的目的:

描述两个不相关的OPDSD病例,扩大已知的FLNA突变谱.
突出表型变异性,并强调多学科治疗这些疾病的重要性.

主要方法:

整体外体测序用于识别受影响个体的FLNA基因变异.
这两种病例的临床表型得到了记录和分析.

主要成果:

在患有口炎的14岁男性 (c.733G>A; p.Glu245Lys) 和患有OPD2的堕胎胎儿 (c.3707G>A; p.Gly1236Asp,新型) 中发现了母性遗传FLNA变异.
观察到不同的临床表现,包括面部形,骨异常,牙问题和心脏形,强调表型变异性.

结论:

这些病例扩大了FLNA突变谱,并证明了OPDSD的广泛表型谱.
早期识别,分子诊断和协调的多学科管理对于改善患者的结果至关重要.

关键词:

美国国家航空公司牙异常情况额外体质变形症大规模并行测序眼部部部位综合征现象型

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