Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2

• Published in: Human mutation Vol. 40; no. 5; pp. 532 - 538
• Main Authors: Macnamara, Ellen F., Koehler, Alanna E., D'Souza, Precilla, Estwick, Tyra, Lee, Paul, Vezina, Gilbert, Fauni, Harper, Braddock, Stephen R., Torti, Erin, Holt, James Matthew, Sharma, Prashant, Malicdan, May Christine V., Tifft, Cynthia J.
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.05.2019
• Subjects: absent salivation; Child, Preschool; Chromosome 5; Chromosome deletion; cystic fibrosis; Deafness; Facies; Fibroblasts; Gene deletion; Genetic Association Studies; Genetic Loci; Genetic Predisposition to Disease; gut malrotation; Hearing loss; Hearing Loss, Sensorineural - diagnosis; Hearing Loss, Sensorineural - genetics; Homozygote; Humans; Magnetic Resonance Imaging; Male; NKCC1; Phenotype; Phenotypes; Sequence Deletion; Sodium; Solute Carrier Family 12, Member 2 - genetics; Syndrome; Tomography, X-Ray Computed; uniparental isodisomy; absent salivation; gut malrotation; NKCC1; uniparental isodisomy; cystic fibrosis

Syndromic sensorineural hearing loss is multigenic and associated with malformations of the ear and other organ systems. Herein we describe a child admitted to the NIH Undiagnosed Diseases Program with global developmental delay, sensorineural hearing loss, gastrointestinal abnormalities, and absent...