A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families.

Genetics Research International
K LeeS M Leal

Abstract

Mutations in the estrogen-related receptor beta (ESRRB) gene is the underlying cause of autosomal recessive nonsyndromic hearing impairment (ARNSHI) due to the DFNB35 locus which maps to 14q24.3. A genome scan of a large consanguineous Pakistani pedigree with ARNSHI established linkage with a maximum multipoint LOD score of 4.2 to the 14q24 region and the region of homozygosity contained the ESRRB gene. Sequencing of the ESRRB gene using DNA samples from hearing-impaired family members uncovered a novel three-nucleotide deletion c.1018_1020delGAG (p.Glu340del). The deletion segregates with hearing impairment in the pedigree and was not observed in 500 control chromosomes. The deletion of glutamic acid residue occurs in the ligand-binding domain of ESRRB protein. It is expected that the deletion affects the ligand-binding activity of the domain in ESRRB, which leads to the ARNSHI.

References

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Citations

Sep 7, 2012·International Journal of Pediatric Otorhinolaryngology·Dana Šafka BrožkováPavel Seeman
Jul 1, 2019·The Journal of the Acoustical Society of America·Benjamin Z ShusterRonna Hertzano

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BETA
genotyping

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MLINK
SWISS
ClustalW
FASTLINK
MERLIN
blastp
Allegro
MODEL Workspace
SimWalk2
Sequencher

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