Abstract
Background: Kilquist syndrome (KILQS) is a recently characterized, rare disorder characterized by hearing loss, secretory dysfunction, gastrointestinal system (GIS) abnormalities, and neurological anomalies including hypotonia and global developmental delay. It is caused by variants in the SLC12A2 (Solute Carrier Family 12 Member 2) gene which encodes the Na-K-2Cl cotransporter isoform 1 (NKCC1). Objective: This study aims to contribute to genotype-phenotype correlations for SLC12A2 variants. Material and Methods: We evaluated a Turkish patient with a novel variant in SLC12A2 gene and reviewed all previously reported cases with Kilquist syndrome. Whole exome sequencing and Sanger sequencing were used as molecular genetic testing methods. Results: Whole exome sequencing revealed a homozygous nonsense variant (NM_001046.3: c.2534G>A (pW845*)) in the SLC12A2 gene in the proband. The parents were heterozygous for this variant. This variant was confirmed by Sanger sequencing. Conclusions: This report presents the first case of a Turkish patient with a novel variant in the SLC12A2 gene. By detailing this unique case, we contribute to the expanding clinical and mutational spectrum of SLC12A2-associated Kilquist syndrome.
Recommended Citation
Yalçin, Hatice Yelda; Güzin, Yiğithan; Cinletil, Tayfun; Özyilmaz, Berk; Uzan, Gamze; Köse, Melis; and Baydan, Figen
(2025)
"A New Case of Kilquist’s Syndrome with a Novel Variant in SLC12A2 and a Brief Review of the Literature,"
Journal of Pediatric Genetics: Vol. 14:
Iss.
1, Article 8.
Available at:
https://jpg.researchcommons.org/journal/vol14/iss1/8