Clinical characterization and further confirmation of the autosomal recessive SLC12A2 disease

• Published in: Journal of human genetics Vol. 66; no. 7; pp. 689 - 695
• Main Authors: Bilal Shamsi, Monis, Saleh, Mohamed, Almuntashri, Makki, Alharby, Essa, Samman, Manar, Peake, Roy W. A., Al-Fadhli, Fatima M., Alasmari, Ali, Faqeih, Eissa A., Almontashiri, Naif A. M.
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01.07.2021
• Subjects: Congenital diseases; Hearing loss; Intellectual disabilities; Microencephaly; Protein transport

Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing loss. However, the clinical and molecular spectrum of...