Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review

Wang,Yanqin; Li,Ming; Luo,Yuanyuan; Zhao,Xin; Liao,Shuang; Jiang,Li; Li,Xiujuan; Zhong,Min

doi:10.3892/etm.2019.8183

January-2020 Volume 19 Issue 1

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January-2020 Volume 19 Issue 1

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Article

Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review

Authors:
- Yanqin Wang
- Ming Li
- Yuanyuan Luo
- Xin Zhao
- Shuang Liao
- Li Jiang
- Xiujuan Li
- Min Zhong
View Affiliations / Copyright

Affiliations: Department of Neurology, Children's Hospital of Chongqing Medical University, Chongqing 400014, P.R. China, Department of Respiration, Kunming Children's Hospital, Kunming, Yunnan 650000, P.R. China
Pages: 327-332
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Published online on: November 12, 2019

https://doi.org/10.3892/etm.2019.8183
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Abstract

Temtamy syndrome is an extremely rare disorder caused by chromosome 12 open reading frame 57 (C12orf57) pathogenic variants. The present study reported a boy with Temtamy syndrome displaying global developmental delay, epilepsy and dysmorphic facial appearance. Whole‑exome sequencing was performed to identify a novel homozygous pathogenic variant of C12orf57 (c.3G >C, p.Met1IIe), and the affected protein structure and function were predicted to be pathogenic. Additionally, clinical features of the other reported 56 patients with C12orf57 pathogenic variants were reviewed and compared. This study highlighted that C12orf57 pathogenic variants are mainly associated with global developmental delay, epilepsy and dysmorphic facial appearances. The clinical features were in accordance with the previously reported cases, except for those with recurrent infection, but without corpus callosum abnormalities. The present study reported the first Asian case to the best of our knowledge with Temtamy syndrome, and the novel C12orf57 pathogenic variant has not reported in any ethnic groups previously. The present study expanded the spectrum of C12orf57 pathogenic variants as well as the ethnic backgrounds of the affected patients.

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Journals

International Journal of Molecular Medicine

International Journal of Oncology

Molecular Medicine Reports

Oncology Reports

Experimental and Therapeutic Medicine

Oncology Letters

Biomedical Reports

Molecular and Clinical Oncology

World Academy of Sciences Journal

International Journal of Functional Nutrition

International Journal of Epigenetics

Medicine International

Temtamy syndrome caused by a new C12orf57 variant in a Chinese boy, including pedigree analysis and literature review

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