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The promoter mutation c.−259C>T (−3438C>T) is not a common cause of non-syndromic hearing impairment in Austria.
- Source :
-
European Archives of Oto-Rhino-Laryngology . Jan2015, Vol. 272 Issue 1, p229-232. 4p. - Publication Year :
- 2015
-
Abstract
- The objective of this study was to investigate the relevance of routine assessment of c.−259C>T in the Austrian newborn screening program. Homozygous and compound heterozygous mutations in the coding region of the human gene encoding gap junction protein GJB2 (Connexin 26) cause up to 50 % of neonatal autosomal recessive non-syndromic hearing impairment identified in Caucasian newborn screening programs. More recently, a null mutation in the GC box of the GJB2 basal promoter c.−259C>T has been described which causes hearing impairment by completely suppressing GJB2 promoter activity. We determined the occurrence of c.−259C>T in cases of non-syndromic hearing impairment lacking known pathogenic alterations in GJB2 ( n = 43), a non-syndromic hearing impaired patient group ( n = 15) bearing the heterozygous GJB2 mutations c.35delG, c.[79G>A];[341A>G] (p. [V27I];[E114G]), c.109G>A (p.V37I), c.154G>C (p.V52L), c.262G>T (p.A88S), c.269T>C (p.L90P) and c.551G>C (p.R184P) and in a normal hearing group lacking alterations in GJB2 ( n = 50). In the analyzed groups, no occurrence of c.−259C>T was found. The c.−259C>T mutation, previously described as −3438C>T, is not a common cause of non-syndromic hearing impairment alone or together with heterozygous pathogenic GJB2 mutations that are statistically overrepresented in non-syndromic hearing impaired patient groups. Screening of newborns for c.−259C>T is therefore unlikely to be commonly found in Austrian NSHI patients but could make a significant contribution to non-syndromic hearing impairment in other populations. [ABSTRACT FROM AUTHOR]
- Subjects :
- *HEARING disorders
*OTOLARYNGOLOGY
*INFANT health
*GENETIC code
Subjects
Details
- Language :
- English
- ISSN :
- 09374477
- Volume :
- 272
- Issue :
- 1
- Database :
- Academic Search Index
- Journal :
- European Archives of Oto-Rhino-Laryngology
- Publication Type :
- Academic Journal
- Accession number :
- 100239789
- Full Text :
- https://doi.org/10.1007/s00405-014-3223-z