Publications by authors named "Qiong-Fen Lin"
Article Synopsis
- This study investigates the genetic causes of autosomal dominant, nonsyndromic, progressive sensorineural hearing loss (ADNSHL) in a large Chinese family.
- Researchers identified a specific mutation in the gene for interferon lambda receptor 1 (Ifnlr1) that impacts the Jak/STAT signaling pathway, linking it to hearing loss.
- Experiments with zebrafish showed that knocking down Ifnlr1 resulted in fewer hair cells and swim bladder issues, suggesting its essential role in auditory function.
Background: Hypoparathyroidism-deafness-renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by haploinsufficiency of GATA binding protein 3 (GATA3) gene mutations, and hearing loss is the most frequent phenotypic feature. This study aimed at identifying the causative gene mutation for a three-generation Chinese family with HDR syndrome and analyzing auditory phenotypes in all familial HDR syndrome cases.
Methods: Three affected family members underwent otologic examinations, biochemistry tests, and other clinical evaluations.