Article
Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080).
American journal of medical genetics. Part A - 1 Dec 2025
Leone Piero, Nisco Alessia, de Gennaro Luciana, Tolomeo Maria, Lorefice Elisa, Petrosillo Giuseppe, Russo Silvia, De Giovanni Donatella, Catacchio Claudia Rita, Lepri Francesca Romana, Ventura Mario, Simonetti Simonetta, Tummolo Albina, Barile Maria
Abstract excerpt
This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss. Clinical findings were consistent with Kilquist syndrome (KILQS), and...
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