A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families
Joint Authors
Khan, Saadullah
Lee, Kwanghyuk
Ahmad, Wasim
Leal, Suzanne M.
Santos-Cortez, Regie Lyn P.
Ansar, Muhammad
Source
Genetics Research International
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-09-25
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Lee, Kwanghyuk& Khan, Saadullah& Ansar, Muhammad& Santos-Cortez, Regie Lyn P.& Ahmad, Wasim& Leal, Suzanne M.. 2011. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genetics Research International،Vol. 2011, no. 2011, pp.1-4.
https://search.emarefa.net/detail/BIM-466500
Modern Language Association (MLA)
Lee, Kwanghyuk…[et al.]. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genetics Research International No. 2011 (2011), pp.1-4.
https://search.emarefa.net/detail/BIM-466500
American Medical Association (AMA)
Lee, Kwanghyuk& Khan, Saadullah& Ansar, Muhammad& Santos-Cortez, Regie Lyn P.& Ahmad, Wasim& Leal, Suzanne M.. A Novel ESRRB Deletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment among Pakistani Families. Genetics Research International. 2011. Vol. 2011, no. 2011, pp.1-4.
https://search.emarefa.net/detail/BIM-466500
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-466500