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Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review

OBJECTIVE: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed. METHODS: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People’s Hospital of Xinjiang Uygur Au...

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Autores principales: Maimaitiming, Jimilanmu, Amuti, Guli, TuHuTi, AiHeMaiTiJiang, Chen, Yuan, Song, Xiang-Xin, Wang, Jing, Alimu, Adila, Zhang, Kaidi, Abudounaiyimu, Munila, Jiang, Jun, Wang, Xin-Ling, Guo, Yan-Ying
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039199/
https://www.ncbi.nlm.nih.gov/pubmed/33854360
http://dx.doi.org/10.2147/PGPM.S297607
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author Maimaitiming, Jimilanmu
Amuti, Guli
TuHuTi, AiHeMaiTiJiang
Chen, Yuan
Song, Xiang-Xin
Wang, Jing
Alimu, Adila
Zhang, Kaidi
Abudounaiyimu, Munila
Jiang, Jun
Wang, Xin-Ling
Guo, Yan-Ying
author_facet Maimaitiming, Jimilanmu
Amuti, Guli
TuHuTi, AiHeMaiTiJiang
Chen, Yuan
Song, Xiang-Xin
Wang, Jing
Alimu, Adila
Zhang, Kaidi
Abudounaiyimu, Munila
Jiang, Jun
Wang, Xin-Ling
Guo, Yan-Ying
author_sort Maimaitiming, Jimilanmu
collection PubMed
description OBJECTIVE: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed. METHODS: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People’s Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed. The detected mutations were verified in nine members of the family. RESULTS: Gene-sequencing results revealed that the proband and the other three members of the family (proband, proband’s mother’s younger brother and the proband’s mother’s younger brother’s younger daughter, and proband’s second elder sister) shared the following mutations: Ile173Asn, Ile237Asn, Val238Glu, Met240Lys, Val282Leu, Leu308Phefs*6, Gln319Ter, Arg357Trp, and Arg484Profs. The Val282Leu mutation was heterozygous in the proband’s mother’s younger brother’s younger daughter, but homozygous in the other three individuals. The father of the proband, the elder brother of the father of the proband, the third younger brother of the father of the proband, and the elder sister of the proband all carried only the Val282Leu mutation. CONCLUSION: Val282Leu is the gene responsible for non-classical 21-hydroxylase deficiency. Screening for this gene in the offspring of patients with non-classical 21-hydroxylase deficiency may help to identify cases early.
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spelling pubmed-80391992021-04-13 Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review Maimaitiming, Jimilanmu Amuti, Guli TuHuTi, AiHeMaiTiJiang Chen, Yuan Song, Xiang-Xin Wang, Jing Alimu, Adila Zhang, Kaidi Abudounaiyimu, Munila Jiang, Jun Wang, Xin-Ling Guo, Yan-Ying Pharmgenomics Pers Med Original Research OBJECTIVE: The gene mutation and clinical characteristics of a patient with non-classical 21-hydroxylase deficiency and his family were analyzed. METHODS: A patient was diagnosed with non-classical 21-hydroxylase deficiency in the Department of Endocrinology of People’s Hospital of Xinjiang Uygur Autonomous Region in December 2016. The clinical data and related gene-sequencing results were analyzed. The detected mutations were verified in nine members of the family. RESULTS: Gene-sequencing results revealed that the proband and the other three members of the family (proband, proband’s mother’s younger brother and the proband’s mother’s younger brother’s younger daughter, and proband’s second elder sister) shared the following mutations: Ile173Asn, Ile237Asn, Val238Glu, Met240Lys, Val282Leu, Leu308Phefs*6, Gln319Ter, Arg357Trp, and Arg484Profs. The Val282Leu mutation was heterozygous in the proband’s mother’s younger brother’s younger daughter, but homozygous in the other three individuals. The father of the proband, the elder brother of the father of the proband, the third younger brother of the father of the proband, and the elder sister of the proband all carried only the Val282Leu mutation. CONCLUSION: Val282Leu is the gene responsible for non-classical 21-hydroxylase deficiency. Screening for this gene in the offspring of patients with non-classical 21-hydroxylase deficiency may help to identify cases early. Dove 2021-04-07 /pmc/articles/PMC8039199/ /pubmed/33854360 http://dx.doi.org/10.2147/PGPM.S297607 Text en © 2021 Maimaitiming et al. https://creativecommons.org/licenses/by-nc/3.0/This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/ (https://creativecommons.org/licenses/by-nc/3.0/) ). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php).
spellingShingle Original Research
Maimaitiming, Jimilanmu
Amuti, Guli
TuHuTi, AiHeMaiTiJiang
Chen, Yuan
Song, Xiang-Xin
Wang, Jing
Alimu, Adila
Zhang, Kaidi
Abudounaiyimu, Munila
Jiang, Jun
Wang, Xin-Ling
Guo, Yan-Ying
Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title_full Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title_fullStr Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title_full_unstemmed Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title_short Non-Classical 21-Hydroxylase Deficiency: Analysis of a Mutant Gene in a Uyghur Family and Literature Review
title_sort non-classical 21-hydroxylase deficiency: analysis of a mutant gene in a uyghur family and literature review
topic Original Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8039199/
https://www.ncbi.nlm.nih.gov/pubmed/33854360
http://dx.doi.org/10.2147/PGPM.S297607
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