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Neuropsychological study in 19 French patients with White‐Sutton syndrome and POGZ mutations
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-12-05 , DOI: 10.1111/cge.13894 Aurore Garde 1, 2 , Jenny Cornaton 1 , Arthur Sorlin 1, 2, 3 , Sébastien Moutton 1, 2 , Claire Nicolas 1 , Christine Juif 1 , David Geneviève 4 , Laurence Perrin 5 , Philippe Khau-Van-Kien 6 , Thomas Smol 7 , Catherine Vincent-Delorme 7 , Bertrand Isidor 8 , Benjamin Cogné 8 , Alexandra Afenjar 9 , Boris Keren 10 , Christine Coubes 4 , Fabienne Prieur 11 , Annick Toutain 12 , Yann Trousselet 4 , Solène Bourgouin 13 , Coralie Gonin-Olympiade 8 , Kim Giraudat 9 , Amélie Piton 14 , Bénédicte Gérard 14 , Sylvie Odent 15 , Fanny Tessier 15 , Lola Lemasson 15 , Solveig Heide 16 , Anne-Claire Gelineau 16 , Catherine Sarret 17 , Anne Miret 17 , Elise Schaefer 18 , Juliette Piard 19 , Rémi Mathevet 19 , Marion Boucon 20 , Ange-Line Bruel 2, 3 , Frederic Tran Mau-Them 2, 3 , Martin Chevarin 3 , Antonio Vitobello 2, 3 , Christophe Philippe 2, 3 , Christel Thauvin-Robinet 1, 2, 3 , Laurence Faivre 1, 3
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-12-05 , DOI: 10.1111/cge.13894 Aurore Garde 1, 2 , Jenny Cornaton 1 , Arthur Sorlin 1, 2, 3 , Sébastien Moutton 1, 2 , Claire Nicolas 1 , Christine Juif 1 , David Geneviève 4 , Laurence Perrin 5 , Philippe Khau-Van-Kien 6 , Thomas Smol 7 , Catherine Vincent-Delorme 7 , Bertrand Isidor 8 , Benjamin Cogné 8 , Alexandra Afenjar 9 , Boris Keren 10 , Christine Coubes 4 , Fabienne Prieur 11 , Annick Toutain 12 , Yann Trousselet 4 , Solène Bourgouin 13 , Coralie Gonin-Olympiade 8 , Kim Giraudat 9 , Amélie Piton 14 , Bénédicte Gérard 14 , Sylvie Odent 15 , Fanny Tessier 15 , Lola Lemasson 15 , Solveig Heide 16 , Anne-Claire Gelineau 16 , Catherine Sarret 17 , Anne Miret 17 , Elise Schaefer 18 , Juliette Piard 19 , Rémi Mathevet 19 , Marion Boucon 20 , Ange-Line Bruel 2, 3 , Frederic Tran Mau-Them 2, 3 , Martin Chevarin 3 , Antonio Vitobello 2, 3 , Christophe Philippe 2, 3 , Christel Thauvin-Robinet 1, 2, 3 , Laurence Faivre 1, 3
Affiliation
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White‐Sutton syndrome is a rare developmental disorder characterized by global developmental delay, intellectual disabilities (ID), and neurobehavioral abnormalities secondary to pathogenic pogo transposable element‐derived protein with zinc finger domain (POGZ) variants. The purpose of our study was to describe the neurocognitive phenotype of an unbiased national cohort of patients with identified POGZ pathogenic variants. This study is based on a French collaboration through the AnDDI‐Rares network, and includes 19 patients from 18 families with POGZ pathogenic variants. All clinical data and neuropsychological tests were collected from medical files. Among the 19 patients, 14 patients exhibited ID (six mild, five moderate and three severe). The five remaining patients had learning disabilities and shared a similar neurocognitive profile, including language difficulties, dysexecutive syndrome, attention disorders, slowness, and social difficulties. One patient evaluated for autism was found to have moderate autism spectrum disorder. This study reveals that the cognitive phenotype of patients with POGZ pathogenic variants can range from learning disabilities to severe ID. It highlights that pathogenic variations in the same genes can be reported in a large spectrum of neurocognitive profiles, and that children with learning disabilities could benefit from next generation sequencing techniques.
中文翻译：
19 名患有 White-Sutton 综合征和 POGZ 突变的法国患者的神经心理学研究
White-Sutton 综合征是一种罕见的发育障碍，其特征是全球发育迟缓、智力障碍 (ID) 和继发于具有锌指结构域 ( POGZ ) 变异的致病性 pogo 转座元件衍生蛋白的神经行为异常。我们研究的目的是描述具有已鉴定POGZ致病变异的无偏见国家队列患者的神经认知表型。本研究基于法国通过 AnDDI-Rares 网络开展的合作，包括来自 18 个POGZ家庭的 19 名患者致病性变异。所有临床数据和神经心理学测试均来自医疗档案。在 19 名患者中，14 名患者出现 ID（6 名轻度、5 名中度和 3 名重度）。其余五名患者有学习障碍，并具有相似的神经认知特征，包括语言困难、执行障碍综合征、注意力障碍、行动迟缓和社交困难。一名接受过自闭症评估的患者被发现患有中度自闭症谱系障碍。本研究揭示了POGZ患者的认知表型致病变异的范围可以从学习障碍到严重的 ID。它强调了相同基因的致病变异可以在大范围的神经认知谱中报告，并且有学习障碍的儿童可以从下一代测序技术中受益。
更新日期：2021-02-08
中文翻译：
19 名患有 White-Sutton 综合征和 POGZ 突变的法国患者的神经心理学研究
White-Sutton 综合征是一种罕见的发育障碍，其特征是全球发育迟缓、智力障碍 (ID) 和继发于具有锌指结构域 ( POGZ ) 变异的致病性 pogo 转座元件衍生蛋白的神经行为异常。我们研究的目的是描述具有已鉴定POGZ致病变异的无偏见国家队列患者的神经认知表型。本研究基于法国通过 AnDDI-Rares 网络开展的合作，包括来自 18 个POGZ家庭的 19 名患者致病性变异。所有临床数据和神经心理学测试均来自医疗档案。在 19 名患者中，14 名患者出现 ID（6 名轻度、5 名中度和 3 名重度）。其余五名患者有学习障碍，并具有相似的神经认知特征，包括语言困难、执行障碍综合征、注意力障碍、行动迟缓和社交困难。一名接受过自闭症评估的患者被发现患有中度自闭症谱系障碍。本研究揭示了POGZ患者的认知表型致病变异的范围可以从学习障碍到严重的 ID。它强调了相同基因的致病变异可以在大范围的神经认知谱中报告，并且有学习障碍的儿童可以从下一代测序技术中受益。
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