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Nonsyndromic hereditary hearing loss.

Published on Jan 1, 2011in Advances in oto-rhino-laryngology
· DOI :10.1159/000322867
Raye L. Alford10
Estimated H-index: 10
(BCM: Baylor College of Medicine)
Abstract
The etiology of hereditary hearing loss is extraordinarily complex. More than 400 genetic syndromes are associated with hearing loss and more than 140 genetic loci associated with nonsyndromic hearing
  • References (32)
  • Citations (8)
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References32
Newest
#1Cynthia J. Schoen (UM: University of Michigan)H-Index: 3
#2Sarah B. Emery (UM: University of Michigan)H-Index: 13
Last. Marci M. Lesperance (Kresge Hearing Research Institute)H-Index: 22
view all 10 authors...
Auditory neuropathy is a rare form of deafness characterized by an absent or abnormal auditory brainstem response with preservation of outer hair cell function. We have identified Diaphanous homolog 3 (DIAPH3) as the gene responsible for autosomal dominant nonsyndromic auditory neuropathy (AUNA1), which we previously mapped to chromosome 13q21-q24. Genotyping of additional family members narrowed the interval to an 11-Mb, 3.28-cM gene-poor region containing only four genes, including DIAPH3. DNA...
61 CitationsSource
#1Xuezhong Liu (UM: University of Miami)H-Index: 11
#2Dongyi Han (Chinese PLA General Hospital)H-Index: 11
Last. Huijun Yuan (Chinese PLA General Hospital)H-Index: 20
view all 22 authors...
We report a large Chinese family with X-linked postlingual nonsyndromic hearing impairment in which the critical linkage interval spans a genetic distance of 5.41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the three previously reported DFN2 families identified four different missense mutations in PRPS1. These mutations result in a loss of phosphoribosyl pyrophosphate (PRPP) synthetase 1 activity, as was shown in ...
60 CitationsSource
#1Silvia Modamio-Høybjør (University of Sussex)H-Index: 12
#2Ángeles Mencía (University of Sussex)H-Index: 14
Last. Miguel A. Moreno-Pelayo (University of Sussex)H-Index: 24
view all 7 authors...
We previously mapped a novel autosomal dominant deafness locus, DFNA44, by studying a family with postlingual, progressive, nonsyndromic hearing loss. We report here on the identification of a mutation in CCDC50 as the cause of hearing loss in the family. CCDC50 encodes Ymer, an effector of epidermal growth factor (EGF)–mediated cell signaling that is ubiquitously expressed in different organs and has been suggested to inhibit down-regulation of the EGF receptor. We have examined its expression ...
32 CitationsSource
#1Sedigheh Delmaghani (Pasteur Institute)H-Index: 10
#2Francisco J. del Castillo (Pasteur Institute)H-Index: 13
Last. Christine Petit (Pasteur Institute)H-Index: 64
view all 14 authors...
Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy
162 CitationsSource
#1Yong-Gang Yao (CAS: Chinese Academy of Sciences)H-Index: 44
Last. Hans-Jürgen Bandelt (UHH: University of Hamburg)H-Index: 64
view all 4 authors...
In a number of recent studies, we summarized the obvious errors and shortcomings that can be spotted in many (if not most) mitochondrial DNA (mtDNA) data sets published in medical genetics. We have reanalyzed here the complete mtDNA genome data published in various recent reports of East Asian families with hearing impairment, using a phylogenetic approach, in order to demonstrate the persistence of lab-specific mistakes in mtDNA genome sequencing in cases where those caveats were (deliberately)...
85 CitationsSource
Hearing impairment is a common and highly heterogeneous sensory disorder. Genetic causes are thought to be responsible for more than 60% of the cases in developed countries.1 In the majority of cases, non-syndromic hearing impairment is inherited in an autosomal recessive pattern.2 Thirty eight different loci and 20 genes for autosomal recessive non-syndromic hearing impairment (ARNSHI) have been identified to date.3 In many populations, up to 50% of all cases of ARNSHI are caused by mutations i...
241 CitationsSource
#1Shannon P. PryorH-Index: 11
#2Anne C. MadeoH-Index: 15
Last. Andrew J. GriffithH-Index: 49
view all 11 authors...
Enlargement of the vestibular aqueduct (EVA) and its contents, the endolymphatic sac and duct, is the most common radiologic malformation of the inner ear associated with sensorineural hearing loss.1 It may occur alone or in combination with an incomplete partition of the apical turn of the cochlea as part of a complex of malformations known as a Mondini deformity.2 Hearing loss in ears with EVA is typically pre- or perilingual in onset, sensorineural or mixed, and fluctuating or progressive. EV...
201 CitationsSource
#1R VargaH-Index: 2
#2Philip M. KelleyH-Index: 20
Last. William J. KimberlingH-Index: 14
view all 7 authors...
It is estimated that about 1 in 500 children are born with a significant hearing loss.1 Non-syndromic recessive hearing loss (NSRHL) represents a major aetiologic factor in childhood hearing loss since it accounts for approximately 40% of all cases.2 Many of these genetic forms of hearing loss are indistinguishable with current clinical methods. Even so, more than 12 recessive genes have been identified primarily from large consanguineous pedigrees (see the Hereditary Hearing Loss Homepage http:...
172 CitationsSource
#1Xue Zhong Liu (UM: University of Miami)H-Index: 32
#2Xia Juan Xia (VCU: Virginia Commonwealth University)H-Index: 10
Last. Li Rong XuH-Index: 4
view all 11 authors...
Mutations in GJB2, encoding gap junction beta 2 protein (connexin 26), are responsible for the commonest form of non-syndromic recessive deafness in many populations. It has been reported recently that the most common 35delG mutation in GJB2 is exceptionally low in Japanese and Korean populations, but another deletion, 235delC, is relatively frequent. Since the Chinese constitute approximately one fifth of the global population, the frequency of GJB2 mutations in the population has important imp...
138 CitationsSource
#1P.E. Leon (UCR: University of Costa Rica)H-Index: 1
#2Anil K. Lalwani (UCSF: University of California, San Francisco)H-Index: 42
7 CitationsSource
Cited By8
Newest
#1Enrico MartinesH-Index: 15
#2Francesco MartinesH-Index: 15
Last. P SammarcoH-Index: 4
view all 7 authors...
AbstractObjective: To evaluate the frequency of GJB2 mutations and their correlation with phenotype in Sicilian non-syndromic sensorineural hearing loss (NSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 102 Sicilian NSHL patients. Results: Fifteen different mutations in GJB2 and seventeen different genotypes were detected. No GJB6 mutation...
5 CitationsSource
#1Tiago D. Matos (University of Lisbon)H-Index: 7
#2Helena Simões-Teixeira (University of Lisbon)H-Index: 5
Last. Graça Fialho (University of Lisbon)H-Index: 8
view all 13 authors...
AbstractObjective: To assess the spectrum and prevalence of mutations in the GJB2 gene in Portuguese nonsyndromic sensorineural hearing loss (NSSHL) patients. Design: Sequencing of the coding region, basal promoter, exon 1, and donor splice site of the GJB2 gene; screening for the presence of the two common GJB6 deletions. Study sample: A cohort of 264 Portuguese NSSHL patients. Results: At least one out of 21 different GJB2 variants was identified in 80 (30.2%) of the 264 patients analysed. Two...
14 CitationsSource
#1Gabrielle N. Manzoli (FIOCRUZ: Oswaldo Cruz Foundation)H-Index: 1
#2Kiyoko Abe-Sandes (FIOCRUZ: Oswaldo Cruz Foundation)H-Index: 7
Last. Angelina Xavier Acosta (FIOCRUZ: Oswaldo Cruz Foundation)H-Index: 15
view all 9 authors...
OBJECTIVE: There are many hearing impaired individuals in Monte Santo, a rural municipality in the state of Bahia, Brazil, including multiple familial cases strongly suggestive of a genetic aetiology. METHODS: The present study investigated 81 subjects with hearing impairment (HI) recruited from 36 families. Mutations often associated with HI, i.e. the DFNB1 mutations c.35delG in GJB2, deletions del(GJB6-D13S1830) and del(GJB6-D13S1854), and A1555G in the mitochondrial gene MTRNR1 were initially...
11 CitationsSource
#1Liang Zong (Chinese PLA General Hospital)H-Index: 9
#2Chunye LuH-Index: 1
Last. Qiuju Wang (Chinese PLA General Hospital)H-Index: 16
view all 9 authors...
Hereditary hearing loss is one of the most common neurosensory defects in humans. Approximately 70% of cases are nonsyndromic and could be inherited in autosomal dominant, autosomal recessive, mitochondrial, X-linked, and Y-linked manners (Wang et al., 2004; Alford, 2011). The autosomal dominant type, comprising 15%–20% of nonsyndromic hearing loss, is monogenic and genetically heterogeneous. Since the first dominant deafness locus (DFNA1) was identified in 1992, a total of 64 DFNA loci have bee...
4 CitationsSource
#1Alan H. Bittles (UWA: University of Western Australia)H-Index: 43
1. Consanguineous marriage, past and present 2. Religious attitudes and rulings on consanguineous marriage 3. Civil legislation on consanguineous and affinal marriage 4. Consanguinity: the scientific and medical debates of the nineteenth and early twentieth centuries 5. Demographic and socioeconomic aspects of consanguineous marriage 6. A population genetics perspective on consanguinity 7. Consanguinity and reproductive behaviour 8. Consanguinity and metrical traits at birth and in childhood 9. ...
64 Citations
#1Benjamin KopeckyH-Index: 13
#2Bernd Fritzsch (UI: University of Iowa)H-Index: 69
Hearing loss affects hundreds of millions of people worldwide by dampening or cutting off their auditory connection to the world. Current treatments for sensorineural hearing loss (SNHL) with cochlear implants are not perfect, leaving regenerative medicine as the logical avenue to a perfect cure. Multiple routes to regeneration of damaged hair cells have been proposed and are actively pursued. Each route not only requires a keen understanding of the molecular basis of ear development but also fa...
25 CitationsSource
#1Noel Taboada LugoH-Index: 1
view all 9 authors...
Hearing loss is one of the most common chronic health problems all over the world, affecting people of all age, sex and socioeconomic status. Hearing impairment affects around 17 of 1 000 people younger than 18 years old, the incidence increasing with age: approximately 314 of 1000 persons more than 65 years old have some degree of hearing disability. It can be originated by genetic or environmental causes and, according of the anatomical site of the lesion, they can be conductive, neurosensoria...
Idiopathic Sudden Sensorineural Hearing Loss (ISSNHL) is a rapid loss of hearing caused by damage to the cochlea or auditory nerve. Spontaneous recovery has been seen in 32%–81%. The incidence of t ...
2 Citations