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Molecular characterization of Spanish patients with MECP2 duplication syndrome.
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-02-23 , DOI: 10.1111/cge.13718 Ainhoa Pascual-Alonso 1 , Laura Blasco 1 , Silvia Vidal 1 , Esther Gean 2 , Patricia Rubio 2 , Mar O'Callaghan 3 , Antonio F Martínez-Monseny 2 , Alba Aina Castells 1, 4 , Clara Xiol 1 , Vicenç Català 5 , Nuria Brandi 6 , Paola Pacheco 6 , Carlota Ros 6 , Miguel Del Campo 7 , Encarna Guillén 8 , Salva Ibañez 8 , María J Sánchez 8 , Pablo Lapunzina 9, 10 , Julián Nevado 9, 10 , Fernando Santos 9 , Elisabet Lloveras 11 , Juan D Ortigoza-Escobar 3 , María I Tejada 10, 12 , Hiart Maortua 10, 12 , Francisco Martínez 13 , Carmen Orellana 13 , Mónica Roselló 13 , María A Mesas 14 , María Obón 15 , Alberto Plaja 16 , Joaquín A Fernández-Ramos 17 , Eduardo Tizzano 18 , Rosario Marín 19 , José L Peña-Segura 20 , Soledad Alcántara 4 , Judith Armstrong 6, 10, 21
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-02-23 , DOI: 10.1111/cge.13718 Ainhoa Pascual-Alonso 1 , Laura Blasco 1 , Silvia Vidal 1 , Esther Gean 2 , Patricia Rubio 2 , Mar O'Callaghan 3 , Antonio F Martínez-Monseny 2 , Alba Aina Castells 1, 4 , Clara Xiol 1 , Vicenç Català 5 , Nuria Brandi 6 , Paola Pacheco 6 , Carlota Ros 6 , Miguel Del Campo 7 , Encarna Guillén 8 , Salva Ibañez 8 , María J Sánchez 8 , Pablo Lapunzina 9, 10 , Julián Nevado 9, 10 , Fernando Santos 9 , Elisabet Lloveras 11 , Juan D Ortigoza-Escobar 3 , María I Tejada 10, 12 , Hiart Maortua 10, 12 , Francisco Martínez 13 , Carmen Orellana 13 , Mónica Roselló 13 , María A Mesas 14 , María Obón 15 , Alberto Plaja 16 , Joaquín A Fernández-Ramos 17 , Eduardo Tizzano 18 , Rosario Marín 19 , José L Peña-Segura 20 , Soledad Alcántara 4 , Judith Armstrong 6, 10, 21
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MECP2 duplication syndrome (MDS) is an X-linked neurodevelopmental disorder characterized by a severe to profound intellectual disability, early onset hypotonia and diverse psycho-motor and behavioural features. To date, fewer than 200 cases have been published. We report the clinical and molecular characterization of a Spanish MDS cohort that included 19 boys and 2 girls. Clinical suspicions were confirmed by array comparative genomic hybridization and multiplex ligation-dependent probe amplification (MLPA). Using, a custom in-house MLPA assay, we performed a thorough study of the minimal duplicated region, from which we concluded a complete duplication of both MECP2 and IRAK1 was necessary for a correct MDS diagnosis, as patients with partial MECP2 duplications lacked some typical clinical traits present in other MDS patients. In addition, the duplication location may be related to phenotypic severity. This observation may provide a new approach for genotype-phenotype correlations, and thus more personalized genetic counselling.
中文翻译：
西班牙患者患有MECP2复制综合征的分子特征。
MECP2复制综合征（MDS）是一种X连锁神经发育障碍，其特征为严重至严重的智力残疾，早期发作性肌张力低下以及多种心理运动和行为特征。迄今为止，已发表的案例不到200例。我们报告了西班牙MDS队列的临床和分子表征，该队列包括19个男孩和2个女孩。通过阵列比较基因组杂交和多重连接依赖探针扩增（MLPA）证实了临床怀疑。我们使用一种定制的内部MLPA分析方法，对最小重复区域进行了深入研究，得出结论，对于MEDS2的正确诊断，MECP2和IRAK1的完全重复是必要的，因为部分MECP2重复的患者缺乏一些典型的其他MDS患者存在的临床特征。此外，复制位置可能与表型严重性有关。该观察结果可能为基因型-表型的相关性提供新的方法，从而提供更多的个性化遗传咨询。
更新日期：2020-04-12
中文翻译：
西班牙患者患有MECP2复制综合征的分子特征。
MECP2复制综合征（MDS）是一种X连锁神经发育障碍，其特征为严重至严重的智力残疾，早期发作性肌张力低下以及多种心理运动和行为特征。迄今为止，已发表的案例不到200例。我们报告了西班牙MDS队列的临床和分子表征，该队列包括19个男孩和2个女孩。通过阵列比较基因组杂交和多重连接依赖探针扩增（MLPA）证实了临床怀疑。我们使用一种定制的内部MLPA分析方法，对最小重复区域进行了深入研究，得出结论，对于MEDS2的正确诊断，MECP2和IRAK1的完全重复是必要的，因为部分MECP2重复的患者缺乏一些典型的其他MDS患者存在的临床特征。此外，复制位置可能与表型严重性有关。该观察结果可能为基因型-表型的相关性提供新的方法，从而提供更多的个性化遗传咨询。
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