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首页> 外文期刊>American journal of medical genetics, Part A >Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies
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Arthrogryposis and pterygia as lethal end manifestations of genetically defined congenital myopathies

机译：Arthrofroposis和Pterygia作为遗传定义的先天性肌病的致命表现

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摘要

Arthrogryposis multiplex congenita affects approximately 1 in 3,000 individuals of different ethnic backgrounds and displays an equal incidence in males and females. The underlying mechanism for congenital contracture of the joints is decreased fetal movement during intrauterine development. This disorder is associated with over 400 medical conditions and 350 known genes that display considerable variability in phenotypic expression. In this report, four fetal or perinatal autopsy cases of arthrogryposis were studied by gross morphology, microscopic histopathologic examination, and whole genome sequencing of postmortem DNA. Two stillborn sibling fetuses with arthrogryposis, pterygia, and amyoplasia had compound heterozygous pathogenic variants in NEB . A neonate with a histopathologic diagnosis of nemaline myopathy had a heterozygous de novo pathogenic variant in ACTA1 . Another stillborn infant with pterygia and arthrogryposis had a heterozygous de novo likely pathogenic variant in BICD2 . These cases demonstrate the utility of whole genome sequencing as the principal diagnostic method of lethal forms of skeletal muscle disorders that present with arthrogryposis and muscle amyoplasia/hypoplasia. Molecular diagnosis provides an opportunity for studying patterns of inheritance and for family counseling concerning future pregnancies.
机译：Arthro血杂交多重Congenita影响了3,000个不同种族背景中的大约1个，并在男性和女性中显示出平等的发病率。联合术后的先天性挛缩的潜在机制减少了宫内发育过程中的胎儿运动。该疾病与超过400例医疗病症和350个已知基因相关，可在表型表达中显示相当大的变异性。在本报告中，通过总体形态，微观组织病理学检查和后期DNA的全基因组测序研究了四种胎儿或围产期尸检病例。两种雌激血杂交胎儿，翼状胬肉和孢子瘤胎儿在NEB中具有复方杂合子致病变体。具有Nemaline肌病组织病理学诊断的新生儿在Acta1中具有杂合的De Novo致病变体。另一个患有翼状胬肉和氨基吡曲霉的婴儿在BICD2中具有杂合的de novo致病症。这些病例证明了全基因组测序作为致死形式的骨骼肌疾病的主要诊断方法，其存在具有腺血糖和肌肉肿瘤/发育不全的骨骼肌疾病。分子诊断为研究未来怀孕的遗产模式和家庭咨询提供了机会。

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