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DOI 10.1016/j.gim.2022.02.013

Медицинская библиотека · Genetics in medicine : official journal of the American College of Medical Genetics · 2022

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.

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 Elena V, University of Washington Centre for Mendelian Genomics (UW-CMG), 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 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, Genomics England Research Consortium, Kleinendorst Lotte, Donaldson Alan, Alders Marielle, De Paepe Anne, Sadikovic Bekim, McNeill Alisdair

СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАПеревод в очереди

Аннотация

PURPOSE: This study aimed to undertake a multidisciplinary characterization of the phenotype associated with SOX11 variants.

METHODS

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.

RESULTS

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.

CONCLUSION

SOX11 syndrome is a distinct clinical entity with characteristic clinical features and episignature differentiating it from BAFopathies.

Для цитирования: 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 Elena V, University of Washington Centre for Mendelian Genomics (UW-CMG), 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 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, Genomics England Research Consortium, Kleinendorst Lotte, Donaldson Alan, Alders Marielle, De Paepe Anne, Sadikovic Bekim, McNeill Alisdair. SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile.. Genetics in medicine : official journal of the American College of Medical Genetics. 2022. DOI: 10.1016/j.gim.2022.02.013.

Предметные рубрики MeSH

DNA MethylationHumansHypogonadismKlinefelter SyndromeNeurodevelopmental DisordersPhenotypeSOXC Transcription FactorsExome Sequencing
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