A novel variant in the SLC12A1 gene in two families with antenatal Bartter syndrome

作者：Breinbjerg Anders^*; Rittig Charlotte Siggaard; Gregersen Niels; Rittig Soren; Christensen Jane Hvarregaard

来源：Acta Paediatrica, 2017, 106(1): 161-167.

DOI：10.1111/apa.13635

• Bartter syndrome
• Hypokalaemic alkalosis
• Polyuria
• SLC12A1 gene

Aim: Bartter syndrome is an autosomal-recessive inherited disease in which patients present with hypokalaemia and metabolic alkalosis. We present two apparently nonrelated cases with antenatal Bartter syndrome type I, due to a novel variant in the SLC12A1 gene encoding the bumetanide-sensitive sodium-(potassium)-chloride cotransporter 2 in the thick ascending limb of the loop of Henle.
Methods: Blood samples were received from the two cases and 19 of their relatives, and deoxyribonucleic acid was extracted. The coding regions of the SLC12A1 gene were amplified using polymerase chain reaction, followed by bidirectional direct deoxyribonucleic acid sequencing.
Results: Each affected child in the two families was homozygous for a novel inherited variant in the SLC12A1gene, c.1614T>A. The variant predicts a change from a tyrosine codon to a stop codon (p.Tyr538Ter). The two cases presented antenatally and at six months of age, respectively.
Conclusion: The two cases were homozygous for the same variant in the SLC12A1 gene, but presented clinically at different ages. This could eventually be explained by the presence of other gene variants or environmental factors modifying the phenotypes. The phenotypes of the patients were similar to other patients with antenatal Bartter syndrome.

• 出版日期2017-1