SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.
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DOI：
10.1016/j.gim.2022.02.013
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发表时间：
2022-06
影响因子：
8.8
通讯作者：
McNeill, Alisdair
中科院分区：
文献类型：
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作者：
Al-Jawahiri, Reem;Foroutan, Aidin;Kerkhof, Jennifer;McConkey, Haley;Levy, Michael;Haghshenas, Sadegheh;Rooney, Kathleen;Turner, Jasmin;Shears, Debbie;Holder, Muriel;Lefroy, Henrietta;Castle, Bruce;Reis, Linda M.;Semina, V. Elena;Lachlan, Katherine;Chandler, Kate;Wright, Thomas;Clayton-Smith, Jill;Hug, Franziska Phan;Pitteloud, Nelly;Bartoloni, Lucia;Hoffjan, Sabine;Park, Soo-Mi;Thankamony, Ajay;Lees, Melissa;Wakeling, Emma;Naik, Swati;Hanker, Britta;Girisha, Katta M.;Agolini, Emanuele;Giuseppe, Zampino;Alban, Ziegler;Tessarech, Marine;Keren, Ziegler Boris;Afenjar, Alexandra;Zweier, Christiane;Reis, Andre;Smol, Thomas;Tsurusaki, Yoshinori;Nobuhiko, Okamoto;Sekiguchi, Futoshi;Tsuchida, Naomi;Matsumoto, Naomichi;Kou, Ikuyo;Yonezawa, Yoshiro;Ikegawa, Shiro;Callewaert, Bert;Freeth, Megan;Kleinendorst, Lotte;Donaldson, Alan;Alders, Marielle;De Paepe, Anne;Sadikovic, Bekim;McNeill, Alisdair
本研究旨在对与SOX 11变体相关的表型进行多学科表征。通过外显子组和基因组测序以及国际数据共享，确定了SOX11中具有蛋白质改变变体的个体。由转诊临床医生进行深入的临床表型分析。使用Infinium MethylationEPIC阵列评估血液DNA甲基化。使用RNAscope确定发育中人脑中SOX 11的表达模式。我们报告了38例新的SOX 11变异患者。特发性低促性腺激素性腺功能减退症被证实为SOX 11综合征的特征。在SOX 11综合征中发现了一种独特的血液DNA甲基化模式，将SOX 11综合征与其他BAF病分开。SOX 11综合征是一种独特的临床实体，具有特征性的临床特征和区别于BAF病的附加标志。
This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants. Individuals with protein altering variants in SOX11 were identified through exome and genome sequencing and international data sharing. Deep clinical phenotyping was undertaken by referring clinicians. Blood DNA methylation was assessed using Infinium MethylationEPIC array. The expression pattern of SOX11 in developing human brain was defined using RNAscope. We reported 38 new patients with SOX11 variants. Idiopathic hypogonadotropic hypogonadism was confirmed as a feature of SOX11 syndrome. A distinctive pattern of blood DNA methylation was identified in SOX11 syndrome, separating SOX11 syndrome from other BAFopathies. SOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies.
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影响因子：
9.8
作者：
Aref-Eshghi, Erfan;Kerkhof, Jennifer;Sadikovic, Bekim
通讯作者：
Sadikovic, Bekim
影响因子：
21.1
作者：
Ho, Yugong;Hu, Peng;Liebhaber, Stephen A.
通讯作者：
Liebhaber, Stephen A.
影响因子：
--
作者：
Kim, Hee-Dae;Choe, Han Kyoung;Kim, Kyungjin
通讯作者：
Kim, Kyungjin
影响因子：
30.8
作者：
Scholz, Barbara A.;Sumida, Noriyuki;Ohlsson, Rolf
通讯作者：
Ohlsson, Rolf
影响因子：
3.2
作者：
Cho, Chih-Yi;Tsai, Wen-Yu;Tung, Yi-Ching
通讯作者：
Tung, Yi-Ching