Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study

Ying-Fei Shao^{1

2

3}, Hong Wang⁴, Yi-Xiu Wang⁵, Le-Ping Shao^{6

7}, Sai Wang^{8

9}

Affiliations

¹ Renji College of Wenzhou Medical University, Wenzhou, China.
² Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
³ Laboratory of Renal Disease, Qingdao, China.
⁴ Department of Nephrology, Eighth People's Hospital of Qingdao, Qingdao, China.
⁵ Darpartment of Hepatic Surgery, Shanghai Cancer Center, Shanghai Medical College, Fudan University, Shanghai, China.
⁶ Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China. lepingshao@163.com.
⁷ Laboratory of Renal Disease, Qingdao, China. lepingshao@163.com.
⁸ Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China. Wangsai312@163.com.
⁹ Department of Dermatology, Peking University First Hospital, Beijing, China. Wangsai312@163.com.

Ying-Fei Shao et al. World J Pediatr. 2023 Feb.

. 2023 Feb;19(2):200-207.

doi: 10.1007/s12519-022-00634-1. Epub 2022 Nov 22.

Ying-Fei Shao^{1

2

3}, Hong Wang⁴, Yi-Xiu Wang⁵, Le-Ping Shao^{6

7}, Sai Wang^{8

9}

¹ Renji College of Wenzhou Medical University, Wenzhou, China.
² Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China.
³ Laboratory of Renal Disease, Qingdao, China.
⁴ Department of Nephrology, Eighth People's Hospital of Qingdao, Qingdao, China.
⁵ Darpartment of Hepatic Surgery, Shanghai Cancer Center, Shanghai Medical College, Fudan University, Shanghai, China.
⁶ Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China. lepingshao@163.com.
⁷ Laboratory of Renal Disease, Qingdao, China. lepingshao@163.com.
⁸ Department of Nephrology, The Affiliated Qingdao Municipal Hospital of Qingdao University, No.5 Donghai Middle Road, Qingdao, 266071, China. Wangsai312@163.com.
⁹ Department of Dermatology, Peking University First Hospital, Beijing, China. Wangsai312@163.com.

No abstract available

References

1. Höglund P, Haila S, Socha J, Tomaszewski L, Saarialho-Kere U, Karjalainen-Lindsberg ML, et al. Mutations of the down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat genet. 1996;14:316–9. - DOI - PubMed
1. Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, et al. Significance of molecular testing for congenital chloride diarrhea. J Pediatr Gastroenterol Nutr. 2011;53:48–54. - DOI - PubMed
1. Mäkelä S, Kere J, Holmberg C, Höglund P. SLC26A3 mutations in congenital chloride diarrhea. Hum Mutat. 2002;20:425–38. - DOI - PubMed
1. Konishi KI, Mizuochi T, Honma H, Etani Y, Morikawa K, Wada K, et al. A novel de novo SLC26A3 mutation causing congenital chloride diarrhea in a Japanese neonate. Mol Genet Genomic Med. 2020;8:e1505. - DOI - PubMed - PMC
1. Dávid É, Török D, Farkas K, Nagy N, Horváth E, Kiss Z, et al. Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report. BMC Pediatr. 2019;19:16. - DOI - PubMed - PMC