Deafness, Autosomal Recessive 1A

Alternative Names

  • DFNB1A
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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

220290

Mode of Inheritance

Autosomal recessive

Gene Map Locus

13q12.11

Description

Sensorineural hearing loss (SNHL) is the most prevalent form of sensory impairment in humans, with an approximate prevalence of 1:1000 live births. At least 50% of the reported cases are hereditary and among these, autosomal recessive deafness (DFNB) is the most frequent and severe form of deafness. Autosomal recessive prelingual deafness is known to be genetically highly heterogeneous. DFNB1A (Deafness, Autosomal Recessive 1A) is caused by homozygous or compound heterozygous mutation in the GJB2 gene. Hereditary forms of hearing impairment caused by GJB2 mutations are the frequent sensory disorders registered among newborns in various human populations.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
220290.1PalestineUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.167del, NM_004004.5:c.235delHeterozygousAutosomal, RecessiveShahin et al. 2002
220290.2PalestineUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.229T>CHomozygousAutosomal, RecessiveShahin et al. 2002
220290.3PalestineUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.-23+1G>A, NM_004004.5:c.35delHeterozygousAutosomal, RecessiveShahin et al. 2002
220290.4EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.-23+1G>A, NM_004004.5:c.35delHeterozygousAutosomal, RecessiveSnoeckx et al. 2005
220290.5EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35del, NM_004004.5:c.109G>AHeterozygousAutosomal, RecessiveSnoeckx et al. 2005
220290.6.1EgyptUnknownYes Bilateral sensorineural hearing impairme...NM_004004.5:c.109G>AHomozygousAutosomal, RecessiveSnoeckx et al. 2005
220290.6.2EgyptFemaleYes Bilateral sensorineural hearing impairme...NM_004004.5:c.109G>AHeterozygousAutosomal, RecessiveSnoeckx et al. 2005 Sister of 220290.6.1
220290.7EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35delHeterozygousAutosomal, RecessiveSnoeckx et al. 2005
220290.8EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.6:c.334_335delHeterozygousAutosomal, RecessiveSnoeckx et al. 2005
220290.9Lebanon Severe sensorineural hearing impairmentNM_004004.5:c.95G>A, NM_004004.6:c.290dupHeterozygousAutosomal, RecessiveMustapha et al, 2001 Compound heterozygot...
220290.10United Arab Emirates Severe sensorineural hearing impairmentNM_004004.5:c.-22-12C>THeterozygousAutosomal, RecessiveTlili et al. 2017
220290.11United Arab Emirates Severe sensorineural hearing impairmentNM_004004.6:c.-1G>AHeterozygousAutosomal, RecessiveTlili et al. 2017
220290.G.1JordanUnknownYes Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveMedlej-Hashim et al. 2002 11 patients from 68 ...
220290.G.2.1PalestineUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveShahin et al. 2002 Group of 5 patients
220290.G.2.2PalestineUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.167delHomozygousAutosomal, RecessiveShahin et al. 2002 Group of 3 patients
220290.G.3.1TunisiaUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveMasmoudi et al. 2000 Unknown number of pa...
220290.G.3.2TunisiaUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.139G>THomozygousAutosomal, RecessiveMasmoudi et al. 2000 Unknown number of pa...
220290.G.3.3TunisiaUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.35del, NM_004004.5:c.139G>THeterozygousAutosomal, RecessiveMasmoudi et al. 2000 Unknown number of pa...
220290.G.4.1AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35delHomozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.2AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.167delHomozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.3AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.-23+1G>A, NM_004004.5:c.35delHeterozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.4AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35del, NM_004004.5:c.139G>THeterozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.5AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.109G>A, NM_004004.5:c.617A>GHeterozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.6AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.109G>AHomozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.7AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35delHeterozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.4.8AlgeriaUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.-23+1G>AHeterozygousAutosomal, RecessiveAmmar-Khodja et al. 2009 Unknown number of pa...
220290.G.5.1AlgeriaUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHeterozygousAutosomal, RecessiveDenoyelle et al. 1997 Unknown number of pa...
220290.G.5.2LebanonUnknown Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveDenoyelle et al. 1997 Unknown number of pa...
220290.G.5.3LebanonUnknownYesYes Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveDenoyelle et al. 1997 5 patients from fami...
220290.G.5.4TunisiaUnknownYesYes Prelingual sensorineural hearing impairm...NM_004004.5:c.35delHomozygousAutosomal, RecessiveDenoyelle et al. 1997 Unknown number of pa...
220290.G.5.5TunisiaUnknownYesYes Prelingual sensorineural hearing impairm...NM_004004.5:c.139G>THomozygousAutosomal, RecessiveDenoyelle et al. 1997 2 patients from fami...
220290.G.6.1EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35delHomozygousAutosomal, RecessiveSnoeckx et al. 2005 10 patients from 10 ...
220290.G.6.2EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.35del, NM_004004.6:c.334_335delHeterozygousAutosomal, RecessiveSnoeckx et al. 2005 3 patients from the ...
220290.G.6.3EgyptUnknown Bilateral sensorineural hearing impairme...NM_004004.5:c.23C>T, NM_004004.5:c.457G>AHeterozygousAutosomal, RecessiveSnoeckx et al. 2005 Unknown number of pa...
220290.G.7.1PalestineUnknownYesYes Profound hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveCarrasquillo et al. 1997 Unknown number of pa...
220290.G.7.2PalestineUnknownYesYes Profound hearing impairmentNM_004004.5:c.229T>CHomozygousAutosomal, RecessiveCarrasquillo et al. 1997 Unknown number of pa...
220290.G.7.3PalestineUnknownYesYes Profound hearing impairmentNM_004004.5:c.35del, NM_004004.5:c.229T>CHeterozygousAutosomal, RecessiveCarrasquillo et al. 1997 Unknown number of co...
220290.G.8.1Lebanon Severe sensorineural hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveMustapha et al, 2001 15 families with at ...
220290.G.9.1United Arab Emirates Severe sensorineural hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveTlili et al. 2017 6 unrelated patients
220290.G.9.2United Arab Emirates Severe sensorineural hearing impairmentNM_004004.5:c.35delHeterozygousAutosomal, RecessiveTlili et al. 2017 2 unrelated patients
220290.G.9.3United Arab Emirates Severe sensorineural hearing impairmentNM_004004.5:c.506G>AHomozygousAutosomal, RecessiveTlili et al. 2017 3 unrelated patients
220290.G.9.4United Arab Emirates Severe sensorineural hearing impairmentNM_004004.5:c.438C>THeterozygousAutosomal, RecessiveTlili et al. 2017 2 unrelated patients
220290.G.10.1Lebanon Hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveBelguith et al. 2005 9 lebanese patients
220290.G.10.2Tunisia Hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveBelguith et al. 2005 16 Tunisian patients
220290.G.10.3Morocco Hearing impairmentNM_004004.5:c.35delHomozygousAutosomal, RecessiveBelguith et al. 2005 6 Moroccan patients
220290.G.11.1United Arab EmiratesYesYes Severe hearing impairment; Profound hea...NM_004004.5:c.506G>AHomozygousAutosomal, RecessiveMahfood et al. 2021 3 siblings (2 male, ...

Other Reports

Kuwait

Kabarity et al. (1981) examined a 13 year old male within an Arabic family with 13 individuals affected with heritable "uncomplicated" childhood deafness at the Genetic Counseling Centre in Kuwait University. Pedigree analysis revealed 9 relatives (4 males and 5 females), all affected likewise, and an affected boy and girl who passed away from unrelated reasons. All cases were offspring from first cousin marriages, which comprised 79.5% of the unions in this family. Additional studies showed that the family migrated to Kuwait from Al-Sawiah village near Nablus city (Palestine) in 1954 where consanguineous marriage is fairly widespread for cultural and social reasons.

Al-Kandari and Alshuaib (2007) studied 200 normal and 15 high-risk neonates in Kuwait to detect permanent hearing loss. Different incidence rates of permanent hearing loss were uncovered in the two groups. Only 1% of the neonates in the normal group had profound sensorineural hearing loss, while another 1% had moderate sensorineural hearing loss. However, in the high-risk group, as much as 27% and 20% of the neonates had severe and moderate sensorineural hearing loss, respectively. Al-Kandari and Alshuaib (2007) recommended nationwide newborn hearing screening programs in Kuwait and other neighboring countries for early detection of permanent hearing loss.

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