Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.,Clinical Genetics

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Inherited cases of CNOT3-associated intellectual developmental disorder with speech delay, autism, and dysmorphic facies.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-07-27 , DOI: 10.1111/cge.13819
Robert Meyer ₁ , Matthias Begemann ₁ , Stephanie Demuth ₂ , Florian Kraft ₁ , Daniela Dey ₁ , Herdit Schüler ₁ , Sabine Busse ₃ , Martin Häusler ₃ , Klaus Zerres ₁ , Ingo Kurth ₁ , Thomas Eggermann ₁ , Miriam Elbracht ₁

Affiliation

De novo pathogenic variants in CNOT3 have recently been reported in a developmental delay disorder (intellectual developmental disorder with speech delay, autism, and dysmorphic facies [IDDSADF, OMIM: #618672]). The patients present with a variable degree of developmental delay and behavioral problems. To date, all reported disease‐causing variants occurred de novo and no parent‐child transmission was observed. We report for the first time autosomal dominant transmissions of the CNOT3‐associated developmental disorder in two unrelated families. The clinical characteristics in our patients match the IDDSADF features reported so far and suggest substantial variability of the phenotype within the same family.

中文翻译：

CNOT3相关的遗传病例伴有语言障碍，自闭症和畸形相的智力发育障碍。

最近报道了CNOT3的从头致病性变异在发育迟缓性疾病（智力发育障碍，伴有言语延迟，自闭症和畸形相[IDDSADF，OMIM：＃618672]）。患者表现出不同程度的发育延迟和行为问题。迄今为止，所有报道的致病变异都是从头发生的，没有观察到亲子传播。我们首次报道了两个无关家庭中CNOT3相关发育障碍的常染色体显性遗传。我们患者的临床特征与迄今报道的IDDSADF特征相符，表明同一家族中表型存在较大差异。

更新日期：2020-09-23

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