OBJECTIVES: The aim of the present study was to evaluate gap junction protein beta2 (GJB2) genetic testing within a national neonate screening program for hearing loss (HL) in a European population. DESIGN: Neonatal cases of nonsyndromic HL (N = 21) were identified by postpartal otoacoustic emissions (OAE) and brain stem electric response audiometry (BERA) analysis. GJB2 testing was performed by direct sequencing. RESULTS: Mutations in GJB2 were found in 15 of 21 children (71.4%) identified by neonatal audiological screening. The 35delG mutation in GJB2 was found homozygous in 10 cases (47.6%) and also as a clear cause of HL as the heterozygous alterations 35delG/del311-324 and 35delG/L90P. In a single case, L90P/R143Q was also identified as a cause of HL. In 3 HL cases that were not identifiable during initial OAE testing, homozygous 35delG and 35delG/R184P defined the genetic basis for HL in 2 cases, whereas one case had wild-type GJB2. CONCLUSIONS: Our findings of the high mutation rate in the Austrian population, especially in neonates identified during the newborn screening program, confirm the importance of screening for mutations in GJB2.
OBJECTIVES: The aim of the present study was to evaluate gap junction protein beta2 (GJB2) genetic testing within a national neonate screening program for hearing loss (HL) in a European population. DESIGN: Neonatal cases of nonsyndromic HL (N = 21) were identified by postpartal otoacoustic emissions (OAE) and brain stem electric response audiometry (BERA) analysis. GJB2 testing was performed by direct sequencing. RESULTS: Mutations in GJB2 were found in 15 of 21 children (71.4%) identified by neonatal audiological screening. The 35delG mutation in GJB2 was found homozygous in 10 cases (47.6%) and also as a clear cause of HL as the heterozygous alterations 35delG/del311-324 and 35delG/L90P. In a single case, L90P/R143Q was also identified as a cause of HL. In 3 HL cases that were not identifiable during initial OAE testing, homozygous 35delG and 35delG/R184P defined the genetic basis for HL in 2 cases, whereas one case had wild-type GJB2. CONCLUSIONS: Our findings of the high mutation rate in the Austrian population, especially in neonates identified during the newborn screening program, confirm the importance of screening for mutations in GJB2.
Authors: Khalid Al-Sebeih; Marium Al-Kandari; Sadika A Al-Awadi; Fatma F Hegazy; Ghada A Al-Khamees; Kamal K Naguib; Reem M Al-Dabbous Journal: Med Princ Pract Date: 2013-09-26 Impact factor: 1.927