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

Jing Qiao; Yue Chen; Ying Lu; Tiejun Wang; Xiaoli Li; Wei Qin; Aifen Li; Guangquan Chen

doi:10.3389/fgene.2021.784135

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

Front Genet. 2022 Jan 24:12:784135. doi: 10.3389/fgene.2021.784135. eCollection 2021.

Authors

Jing Qiao¹, Yue Chen¹, Ying Lu², Tiejun Wang³, Xiaoli Li¹, Wei Qin¹, Aifen Li⁴, Guangquan Chen⁵

Affiliations

¹ Department of Pediatrics, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.
² Department of Clinical Laboratory, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.
³ Department of Pharmacy, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China.
⁴ Department of Pediatrics, Jian Hospital of Shanghai East Hospital, Jian, China.
⁵ Fetal Medicine Unit & Prenatal Diagnosis Center, Shanghai First Maternity and Infant Hospital, Tongji University, Shanghai, China.

Abstract

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.

Keywords: SLC22A18; allergy; fatty liver; imprinted gene; short stature.