GJB2 and GJB6 genes: molecular study and identification of novel GJB2 mutations in the hearing-impaired Argentinean population.
Mutations in the GJB2 gene are responsible for more than half of all cases of recessive non-syndromic deafness. This article presents a mutation analysis of the GJB2, GJB6, OTOF and MTRNR1 genes in 252 patients with sensorineural non-syndromic hearing loss. Thirty-one different mutations were identified in GJB2 and GJB6 in 86 of the 252 (34%) patients. We describe for the first time two new mutations in GJB2: the missense mutation c.29 T>C (p.Leu10Pro) in the N terminal domain and c.326 G>T (p.Gly109Val) in the intracytoplasmic domain of connexin 26. This work shows the high prevalence of GJB2 mutations in the Argentinean population, with frequencies that are comparable to those of the Mediterranean area. Most important, it adds two novel GJB2 mutations to be taken into consideration in the genetic diagnosis of non-syndromic sensorineural hearing loss.
Dalamón
Viviana
V
Instituto de Investigaciones en Ingeniería Genética y Biología Molecular, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad de Buenos Aires, Buenos Aires, Argentina. dalamon@dna.uba.ar
Lotersztein
Vanesa
V
Béhèran
Agustina
A
Lipovsek
Marcela
M
Diamante
Fernando
F
Pallares
Norma
N
Francipane
Liliana
L
Frechtel
Gustavo
G
Paoli
Bibiana
B
Mansilla
Enrique
E
Diamante
Vicente
V
Elgoyhen
Ana Belén
AB
D019943:Amino Acid Substitution; D001118:Argentina; D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D017931:DNA Primers; D016368:Frameshift Mutation; D005808:Genes, Recessive; D014644:Genetic Variation; D034381:Hearing Loss / Q000235:genetics*; D006801:Humans; D007438:Introns; D009154:Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D020641:Polymorphism, Single Nucleotide; D017384:Sequence Deletion
D017630:Connexins; D017931:DNA Primers; C000607042:GJB2 protein, human; D000072259:Connexin 26