This study set out to use advanced Next Generation Sequencing (NGS), MiSeq (Illumina, San Diego, US), to determine the genetic variation of GJB2
, MYO7A, CDH23, TH and EVC2 in two Pakistani deaf brothers.
(connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review," Genetics in Medicine, vol.
Han et al., "GJB2
mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment," Journal of Translational Medicine, vol.
Bai et al., "GJB2
, SLC26A4, and mitochondrial DNA12S rRNA hot-spots in 156 subjects with non-syndromic hearing loss in Tengzhou, China," Acta Oto-Laryngologica, vol.
Prevalence and range of GJB2
and SLC26A4 mutations in patients with autosomal recessive non-syndromic hearing loss.
Literature comparison of mutations observed in the GJB2
The mutation screening strategy was to investigate GJB2
gene mutations including 35delG mutation (OMIM: 121011).
was the second beta connexin gene to be identified.
O estudo genetico investigou inicialmente a presenca da mutacao 35delG no gene GJB2
. Mutacoes no gene GJB2
constituem a principal causa de surdez genetica de heranca autossomica recessiva, sendo a mutacao 35delG a mais comum em muitos grupos etnicos.
La mutacion p.Q829X, ubicada en el exon 22 del gen OTOF, se ha descrito como la tercera mutacion mas frecuente en poblacion espanola con sordera no sindromica, luego de las mutaciones en el gen GJB2
, que ocupan un 50% del total de sorderas no sindromicas geneticas.
"The contribution of GJB2
mutations to slight or mild hearing loss in Australian elementary school children," J.
Some studies reported a high prevalence of GJB2
heterozygous mutations in patients bearing the 1555A [right arrow] G mitochondrial mutation suggesting that GJB2
mutations may aggravate the phenotypic expression of 1555A-G 12S rRNA gene mutation (97).
Etiology of severe sensorineural hearing loss in children: independent impact of congenital cytomegalovirus infection and GJB2
Deafness heterogeneity in a Druze isolate from the Middle East: novel OTOF and PDS mutations, low prevalence of GJB2
35delG mutation and indication for a new DFNB locus.