Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Rie Seyama^{1

2}, Naomi Tsuchida^{1

3}, Yasuyuki Okada⁴, Sonoko Sakata⁵, Keisuke Hamada⁶, Yoshiteru Azuma^{1

7}, Kohei Hamanaka¹, Atsushi Fujita¹, Eriko Koshimizu¹, Satoko Miyatake¹, Takeshi Mizuguchi¹, Shintaro Makino⁸, Atsuo Itakura², Satoshi Okada⁵, Nobuhiko Okamoto⁹, Kazuhiro Ogata⁶, Yuri Uchiyama^{1

3}, Naomichi Matsumoto¹⁰

Affiliations

¹ Department of Human Genetics, Yokohama City University, Yokohama, Japan.
² Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
³ Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
⁴ Department of Pediatrics, National Hospital Organization Higashihiroshima Medical Center, Higashihiroshima, Japan.
⁵ Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
⁶ Department of Biochemistry, Yokohama City University, Yokohama, Japan.
⁷ Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
⁸ Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Chiba, Japan.
⁹ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
¹⁰ Department of Human Genetics, Yokohama City University, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

PMID: 34719681
DOI: 10.1038/s10038-021-00986-y

Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

Rie Seyama et al. J Hum Genet. 2022 Mar.

. 2022 Mar;67(3):157-164.

doi: 10.1038/s10038-021-00986-y. Epub 2021 Nov 1.

Authors

Affiliations

¹ Department of Human Genetics, Yokohama City University, Yokohama, Japan.
² Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
³ Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
⁴ Department of Pediatrics, National Hospital Organization Higashihiroshima Medical Center, Higashihiroshima, Japan.
⁵ Department of Pediatrics, Hiroshima University Graduate School of Biomedical and Health Sciences, Hiroshima, Japan.
⁶ Department of Biochemistry, Yokohama City University, Yokohama, Japan.
⁷ Department of Pediatrics, Aichi Medical University, Nagakute, Japan.
⁸ Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Chiba, Japan.
⁹ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
¹⁰ Department of Human Genetics, Yokohama City University, Yokohama, Japan. naomat@yokohama-cu.ac.jp.

PMID: 34719681
DOI: 10.1038/s10038-021-00986-y

Abstract

TET3 at 2p13.1 encodes tet methylcytosine dioxygenase 3, a demethylation enzyme that converts 5-methylcytosine to 5-hydroxymethylcytosine. Beck et al. reported that patients with TET3 abnormalities in either an autosomal dominant or recessive inheritance fashion clinically showed global developmental delay, intellectual disability, and dysmorphisms. In this study, exome sequencing identified both mono- and biallelic TET3 variants in two families: a de novo variant NM_001287491.1:c.3028 A > G:p.(Asn1010Asp), and compound heterozygous variants NM_001287491.1:c.[2077 C > T];[2896 T > G],p.[Gln693*];[Cys966Gly]. Despite the different inheritance modes, the affected individuals showed similar phenotypic features. Including these three patients, only 14 affected individuals have been reported to date. The accumulation of data regarding individuals with TET3-related disorder is necessary to describe their clinical spectrum.

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References

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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

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Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms

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