Abstract Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and congenital myopathy in a patient from a consanguineous family. Ultra-structural examination of the biopsy revealed few cores/mini-cores and sparse nemaline rods. We found a novel homozygous intronic sequence variant, c.564-2A>C in TPM2. This variant is predicted to abolish the consensus acceptor splice site for exon 6b of TPM2 gene. Parents of the proband, both healthy adults with no clinical features, were heterozygous for the variant. Here we establish a homozygous intronic variant in TPM2 as the likely cause of Escobar variant of multiple pterygium syndrome and congenital myopathy, with sparse nemaline rods.

中文翻译：

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TPM2 纯合内含子变异导致多发性翼状胬肉综合征和先天性肌病的隐性遗传 Escobar 变异

摘要 TPM2 中的致病变异与可变的临床谱相关，包括先天性肌病和远端关节弯曲症，除了具有显性遗传的一种外。我们报告了第二例隐性遗传的 TPM2 相关 Escobar 变异的多发性翼状胬肉综合征和先天性肌病患者来自近亲家庭。活检的超微结构检查显示很少的核心/迷你核心和稀疏的线状体棒。我们在 TPM2 中发现了一个新的纯合内含子序列变体，c.564-2A>C。预计该变体将消除 TPM2 基因外显子 6b 的共有受体剪接位点。先证者的父母都是没有临床特征的健康成年人，对于变异是杂合的。