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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Detalles Bibliográficos
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
Descripción
Sumario: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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