SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition

Ben Ayed Ikhlas; Ouarda Wael; Frikha Fakher; Kammoun Fatma; Souissi Amal; Ben Said Mariem; Bouzid Amal; Elloumi Ines; Hamdani Tarak M.; Gharbi Nourhene; Baklouti Nesrine; Guirat Manel; Mejdoub Fatma; Kharrat Najla; Boujelbene Imene; Abdelhedi Fatma; Belguith Neila; Keskes Leila; Gibriel Abdullah Ahmed; Kamoun Hassen; Triki Chahnez; Alimi Adel M.; Masmoudi Saber

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SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition

机译：SRD5A3-CDG：3D结构建模，临床谱和基于计算机的多重态度识别

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摘要

Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development of various dysmorphic features in significant number of patients, facial recognition entity has not yet been established for SRD5A3-CDG. Herein, we reported a novel SRD5A3 missense pathogenic variant c.460 T > C p.(Ser154Pro). The 3D structural modeling of the SRD5A3 protein revealed additional transmembrane alpha-helices and predicted that the p.(Ser154Pro) variant is located in a potential active site and is capable of reducing its catalytic efficiency. Based on phenotypes of our patients and all published SRD5A3-CDG cases, we identified the most common clinical features as well as some recurrent dysmorphic features such as arched eyebrows, wide eyes, shallow nasal bridge, short nose, and large mouth. Based on facial digital 2D images, we successfully designed and validated a SRD5A3-CDG computer based dysmorphic facial analysis, which achieved 92.5% accuracy. The current work integrates genotypic, 3D structural modeling and phenotypic characteristics of CDG-SRD5A3 cases with the successful development of computer tool for accurate facial recognition of CDG-SRD5A3 complex cases to assist in the diagnosis of this particular disorder globally.

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来源
《American journal of medical genetics, Part A》 |2021年第4期|共10页
作者
Ben Ayed Ikhlas; Ouarda Wael; Frikha Fakher; Kammoun Fatma; Souissi Amal; Ben Said Mariem; Bouzid Amal; Elloumi Ines; Hamdani Tarak M.; Gharbi Nourhene; Baklouti Nesrine; Guirat Manel; Mejdoub Fatma; Kharrat Najla; Boujelbene Imene; Abdelhedi Fatma; Belguith Neila; Keskes Leila; Gibriel Abdullah Ahmed; Kamoun Hassen; Triki Chahnez; Alimi Adel M.; Masmoudi Saber;
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作者单位

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Natl Sch Engineers Sfax ReGIM Lab Res Grp Intelligent Machines LR11ES48 Sfax Tunisia;

Univ Sfax Fac Sci Sfax FSS Sfax Tunisia;

Hedi Chaker Hosp Child Neurol Dept Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Natl Sch Engineers Sfax ReGIM Lab Res Grp Intelligent Machines LR11ES48 Sfax Tunisia;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Natl Sch Engineers Sfax ReGIM Lab Res Grp Intelligent Machines LR11ES48 Sfax Tunisia;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Univ Sfax Fac Med Sfax Sfax Tunisia;

Univ Sfax Fac Med Sfax Sfax Tunisia;

British Univ Egypt BUE Fac Pharm Biochem &

Mol Biol Dept Cairo Egypt;

Hedi Chaker Hosp Med Genet Dept Sfax Tunisia;

Hedi Chaker Hosp Child Neurol Dept Sfax Tunisia;

Natl Sch Engineers Sfax ReGIM Lab Res Grp Intelligent Machines LR11ES48 Sfax Tunisia;

Univ Sfax Lab Mol &

Cellular Screening Proc LPCMC LR15CBS07 Sfax Tunisia;

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原文格式 PDF
正文语种 eng
中图分类医学遗传学;
关键词
3D structure modeling; congenital disorders of glycosylation; exomeamp; 8208; clinical sequencing; facial recognition; polyprenol reductase;

机译：3D结构建模;先天性糖基化疾病;Exome＆amp;8208;临床测序;面部识别;聚丙烯醇还原酶;

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3. Fuzzy Support Vector Machine Based on Color Modeling for Facial Complexion Recognition in Traditional Chinese Medicine [J] . ZHANG Jing1, ZHANG Pei1, ZHUO Li12 电子学报：英文版 . 2016,第003期
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机译：基于计算机的变形脸识别。
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机译：用于3D面部表情识别的自动局部形状频谱分析
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机译：用于3D面部表情识别的局部形状频谱分析
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机译：人类疾病模式的计算机识别：附录F.人体血液热力学化学模型的实验用途，用于检测临床实验室测定中的错误。

SRD5A3-CDG: 3D structure modeling, clinical spectrum, and computer-based dysmorphic facial recognition

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