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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20.
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2020-02-18 , DOI: 10.1038/s41431-020-0582-3 Aurélien Juven 1 , Sophie Nambot 1, 2, 3, 4 , Amélie Piton 5 , Nolwenn Jean-Marçais 1, 3 , Alice Masurel 1, 3 , Patrick Callier 2, 3, 4 , Nathalie Marle 2 , Anne-Laure Mosca-Boidron 2, 4 , Paul Kuentz 2, 4 , Christophe Philippe 2, 4 , Martin Chevarin 2, 4 , Yannis Duffourd 2, 4 , Elodie Gautier 1 , Arnold Munnich 6, 7 , Marlène Rio 6, 7 , Sophie Rondeau 8 , Salima El Chehadeh 9 , Élise Schaefer 9 , Bénédicte Gérard 5 , Sonia Bouquillon 10 , Catherine Vincent Delorme 11 , Christine Francannet 12 , Fanny Laffargue 12 , Laetitia Gouas 13 , Bertrand Isidor 14 , Marie Vincent 14 , Sophie Blesson 15 , Fabienne Giuliano 16 , Olivier Pichon 17 , Cédric Le Caignec 17 , Hubert Journel 18 , Laurence Perrin-Sabourin 19 , Jennifer Fabre-Teste 19 , Dominique Martin 20 , Gaelle Vieville 21 , Klaus Dieterich 22 , Didier Lacombe 23 , Anne-Sophie Denommé-Pichon 1, 2, 3, 4 , Christel Thauvin-Robinet 1, 2, 3, 4 , Laurence Faivre 1, 3, 4
European Journal of Human Genetics ( IF 3.7 ) Pub Date : 2020-02-18 , DOI: 10.1038/s41431-020-0582-3 Aurélien Juven 1 , Sophie Nambot 1, 2, 3, 4 , Amélie Piton 5 , Nolwenn Jean-Marçais 1, 3 , Alice Masurel 1, 3 , Patrick Callier 2, 3, 4 , Nathalie Marle 2 , Anne-Laure Mosca-Boidron 2, 4 , Paul Kuentz 2, 4 , Christophe Philippe 2, 4 , Martin Chevarin 2, 4 , Yannis Duffourd 2, 4 , Elodie Gautier 1 , Arnold Munnich 6, 7 , Marlène Rio 6, 7 , Sophie Rondeau 8 , Salima El Chehadeh 9 , Élise Schaefer 9 , Bénédicte Gérard 5 , Sonia Bouquillon 10 , Catherine Vincent Delorme 11 , Christine Francannet 12 , Fanny Laffargue 12 , Laetitia Gouas 13 , Bertrand Isidor 14 , Marie Vincent 14 , Sophie Blesson 15 , Fabienne Giuliano 16 , Olivier Pichon 17 , Cédric Le Caignec 17 , Hubert Journel 18 , Laurence Perrin-Sabourin 19 , Jennifer Fabre-Teste 19 , Dominique Martin 20 , Gaelle Vieville 21 , Klaus Dieterich 22 , Didier Lacombe 23 , Anne-Sophie Denommé-Pichon 1, 2, 3, 4 , Christel Thauvin-Robinet 1, 2, 3, 4 , Laurence Faivre 1, 3, 4
Affiliation
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Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20 variants were identified as responsible for this syndrome. Indeed, ZBTB20 plays an important role in cognition, memory, learning processes, and has a transcription repressive effect on numerous genes. A more severe phenotype was discussed in patients with missense single nucleotide variants than in those with large deletions. Here, we report on the clinical and molecular results of 14 patients: 6 carrying ZBTB20 missense SNVs, 1 carrying an early truncating indel, and 7 carrying 3q13.31 deletions, recruited through the AnDDI-Rares network. We compared their phenotypes and reviewed the data of the literature, in order to establish more powerful phenotype-genotype correlations. All 57 patients presented mild-to-severe ID and/or a psychomotor delay. Facial features were similar with macrocephaly, prominent forehead, downslanting palpebral fissures, ptosis, and large ears. Hearing loss was far more frequent in patients with missense SNVs (p = 0.002), ectopic calcification, progressive muscular wasting, and contractures were observed only in patients with missense SNVs (p nonsignificant). Corpus callosum dysgenesis (p = 0.00004), hypothyroidism (p = 0.047), and diabetes were also more frequent in this group. However, the median age was 9.4 years in patients with deletions and truncating variant compared with 15.1 years in those with missense SNVs. Longer follow-up will be necessary to determine whether the phenotype of patients with deletions is also progressive.
中文翻译：
报春花综合征：具有 ZBTB20 错义变异与 3q13.31 微缺失（包括 ZBTB20）的患者的表型比较。
报春花综合征的特征是多变的智力缺陷、行为障碍、具有大头畸形的面部特征以及具有听力损失和异位钙化、远端肌肉萎缩和挛缩的进行性表型。2014 年，ZBTB20 变体被确定为导致该综合征的原因。事实上，ZBTB20 在认知、记忆、学习过程中起着重要作用，并对众多基因具有转录抑制作用。在具有错义单核苷酸变异的患者中讨论了比在具有大缺失的患者中更严重的表型。在这里，我们报告了 14 名患者的临床和分子结果：6 名携带 ZBTB20 错义 SNV，1 名携带早期截断插入缺失，7 名携带 3q13.31 缺失，通过 AnDDI-Rares 网络招募。我们比较了它们的表型并回顾了文献数据，以建立更强大的表型-基因型相关性。所有 57 名患者均出现轻度至重度 ID 和/或精神运动延迟。面部特征与巨头畸形、前额突出、睑裂下斜、上睑下垂和大耳朵相似。听力损失在错义 SNV 患者中更为常见（p = 0.002），异位钙化、进行性肌肉萎缩和挛缩仅在错义 SNV 患者中观察到（p 不显着）。胼胝体发育不全（p = 0.00004）、甲状腺功能减退（p = 0.047）和糖尿病在该组中也更常见。然而，缺失和截短变异患者的中位年龄为 9.4 岁，而错义 SNV 患者的中位年龄为 15.1 岁。
更新日期：2020-02-18
中文翻译：
报春花综合征：具有 ZBTB20 错义变异与 3q13.31 微缺失（包括 ZBTB20）的患者的表型比较。
报春花综合征的特征是多变的智力缺陷、行为障碍、具有大头畸形的面部特征以及具有听力损失和异位钙化、远端肌肉萎缩和挛缩的进行性表型。2014 年，ZBTB20 变体被确定为导致该综合征的原因。事实上，ZBTB20 在认知、记忆、学习过程中起着重要作用，并对众多基因具有转录抑制作用。在具有错义单核苷酸变异的患者中讨论了比在具有大缺失的患者中更严重的表型。在这里，我们报告了 14 名患者的临床和分子结果：6 名携带 ZBTB20 错义 SNV，1 名携带早期截断插入缺失，7 名携带 3q13.31 缺失，通过 AnDDI-Rares 网络招募。我们比较了它们的表型并回顾了文献数据，以建立更强大的表型-基因型相关性。所有 57 名患者均出现轻度至重度 ID 和/或精神运动延迟。面部特征与巨头畸形、前额突出、睑裂下斜、上睑下垂和大耳朵相似。听力损失在错义 SNV 患者中更为常见（p = 0.002），异位钙化、进行性肌肉萎缩和挛缩仅在错义 SNV 患者中观察到（p 不显着）。胼胝体发育不全（p = 0.00004）、甲状腺功能减退（p = 0.047）和糖尿病在该组中也更常见。然而，缺失和截短变异患者的中位年龄为 9.4 岁，而错义 SNV 患者的中位年龄为 15.1 岁。
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