Genes, Vol. 14, Pages 1350: Otological Features of Patients with Musculocontractural Ehlers & ndash;Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14)

Genes, Vol. 14, Pages 1350: Otological Features of Patients with Musculocontractural Ehlers–Danlos Syndrome Caused by Pathogenic Variants in CHST14 (mcEDS-CHST14) Genes doi: 10.3390/genes14071350 Authors: Masayuki Kawakita Satoshi Iwasaki Hideaki Moteki Shin-ya Nishio Tomoki Kosho Shin-ichi Usami Musculocontractural Ehlers–Danlos syndrome (EDS) caused by pathogenic variants in CHST14 (mcEDS-CHST14) is a subtype of EDS characterized by multisystem malformations and progressive fragility-related manifestations. A recent international collaborative study showed that 55% of mcEDS-CHST14 patients had hearing loss (HL), more commonly of the high-frequency type. Here, we report the first systemic investigation of the otological features of patients with this disorder based on the world’s largest cohort at Shinshu University Hospital. Nine patients [18 ears; four male and five female patients; mean age, 18 years old (range, 10–28)] underwent comprehensive otological evaluation: audiogram, distortion product otoacoustic emission (DPOAE) test, and tympanometry. The audiogram, available in all 18 ears, showed HL in eight patients (8/9, 89%) and in 14 ears (14/18, 78%): bilateral in six patients (6/9, 67%) and unilateral in two (2/9, 22%); mild in eight ears (8/18, 44%) and moderate in six (6/18, 33%); and high-frequency HL in five (5/18, 28%) and low-frequency HL in five (5/18, 28%). An air-bone gap was detected in on...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research