A Syndrome of Variable Allergy, Short Stature, and Fatty Liver

SLC22A18 (solute carrier family 22 member 18) is an imprinted gene, but its role in growth and development is not clear. In the present study, we recorded the clinical information of six male patients of six unrelated families. Real-time quantitative PCR, Sanger sequencing, and DNA methylation seque...

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Autores principales: Qiao, Jing, Chen, Yue, Lu, Ying, Wang, Tiejun, Li, Xiaoli, Qin, Wei, Li, Aifen, Chen, Guangquan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819686/
https://www.ncbi.nlm.nih.gov/pubmed/35140738
http://dx.doi.org/10.3389/fgene.2021.784135
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author Qiao, Jing
Chen, Yue
Lu, Ying
Wang, Tiejun
Li, Xiaoli
Qin, Wei
Li, Aifen
Chen, Guangquan
author_facet Qiao, Jing
Chen, Yue
Lu, Ying
Wang, Tiejun
Li, Xiaoli
Qin, Wei
Li, Aifen
Chen, Guangquan
author_sort Qiao, Jing
collection PubMed
description SLC22A18 (solute carrier family 22 member 18) is an imprinted gene, but its role in growth and development is not clear. In the present study, we recorded the clinical information of six male patients of six unrelated families. Real-time quantitative PCR, Sanger sequencing, and DNA methylation sequencing were performed in these patients. The results suggested that the patients with the clinical characteristics of allergic allergy, short stature, and fatty liver had a lower expression of SLC22A18. One novel variant (chr11: 2899732 delA) with clinical significance was found in the core promoter region of the patients. Overall, this study found a syndrome associated with SLC22A18.
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spelling pubmed-88196862022-02-08 A Syndrome of Variable Allergy, Short Stature, and Fatty Liver Qiao, Jing Chen, Yue Lu, Ying Wang, Tiejun Li, Xiaoli Qin, Wei Li, Aifen Chen, Guangquan Front Genet Genetics SLC22A18 (solute carrier family 22 member 18) is an imprinted gene, but its role in growth and development is not clear. In the present study, we recorded the clinical information of six male patients of six unrelated families. Real-time quantitative PCR, Sanger sequencing, and DNA methylation sequencing were performed in these patients. The results suggested that the patients with the clinical characteristics of allergic allergy, short stature, and fatty liver had a lower expression of SLC22A18. One novel variant (chr11: 2899732 delA) with clinical significance was found in the core promoter region of the patients. Overall, this study found a syndrome associated with SLC22A18. Frontiers Media S.A. 2022-01-24 /pmc/articles/PMC8819686/ /pubmed/35140738 http://dx.doi.org/10.3389/fgene.2021.784135 Text en Copyright © 2022 Qiao, Chen, Lu, Wang, Li, Qin, Li and Chen. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Qiao, Jing
Chen, Yue
Lu, Ying
Wang, Tiejun
Li, Xiaoli
Qin, Wei
Li, Aifen
Chen, Guangquan
A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title_full A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title_fullStr A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title_full_unstemmed A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title_short A Syndrome of Variable Allergy, Short Stature, and Fatty Liver
title_sort syndrome of variable allergy, short stature, and fatty liver
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819686/
https://www.ncbi.nlm.nih.gov/pubmed/35140738
http://dx.doi.org/10.3389/fgene.2021.784135
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