Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Among the 82 ... Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Among the 82 infants who underwent newborn screening, 12 infants had passed; 3 had connexin-related hearing loss. There were no differences in newborn hearing screening pass rate, neonatal complication, or hearing loss severity between infants with and without connexin-related hearing loss. Schimmenti et al. (2008) pointed out that not all infants with connexin-related hearing loss will fail newborn hearing screening. Family history correlates significantly with connexin-related hearing loss.
Del Castillo et al. (2002) reported 2 individuals with nonsyndromic deafness mapping to 13q12 who were homozygous for a deletion in the GJB6 gene (604418.0004).
In a patient with sporadic congenital profound deafness, Pallares-Ruiz et al. ... Del Castillo et al. (2002) reported 2 individuals with nonsyndromic deafness mapping to 13q12 who were homozygous for a deletion in the GJB6 gene (604418.0004). In a patient with sporadic congenital profound deafness, Pallares-Ruiz et al. (2002) found a homozygous deletion including the 5-prime end of the GJB6 gene, covering at least 150 kb of the DFNB1 region at chromosome 13q12. In a survey by Dodson et al. (2011), 127 (54%) of 235 respondents with DFNB1 due to mutations in the GJB2 and/or GJB6 genes reported vestibular dysfunction, compared to 25 (41%) of 61 deaf controls without DFNB1 deafness (p less than 0.03). Most of the DFNB1 patients with vertigo had to lie down for it to subside, and 48% reported that vertigo interfered with activities of daily living. Vertigo was reported by significantly more cases with truncating than nontruncating mutations and was also associated with a family history of dizziness. Dodson et al. (2011) concluded that vestibular dysfunction is more common in DFNB1 deafness than previously recognized.
Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Overall among these ... Schimmenti et al. (2008) enrolled 95 infants with hearing loss from whom both exons of Cx26 were sequenced and the Cx30 deletion was assayed in a study comparing infants with and without connexin-related hearing loss. Overall among these 95 patients, biallelic mutations were identified in 24.7%, but in only 9.1% of infants of Hispanic origin. Schimmenti et al. (2008) concluded that connexin-related hearing loss occurs in one quarter of infants in an ethnically diverse hearing loss population but with a lower prevalence in Hispanic infants.