Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Deafness, autosomal recessive 36

OMIM:609006
Mode of inheritance:Autosomal recessive
Disease classification:Diseases of the ear and mastoid process


Mutations

Gene SymbolESPN
Reference transcriptNM_031475.2
DNA Changec.1757insG
A.A. Changep.C585fs71X
Exon/Intronexon 8
Mutation Typeinsertion
ReferenceBoulouiz R, Li Y, Soualhine H, Abidi O, Chafik A, N?rnberg G, Becker C, N?rnberg P, Kubisch C, Wollnik B, Barakat A.A novel mutation in the Espin gene causes autosomal recessive nonsyndromic hearing loss but no apparent vestibular dysfunction in a Moroccan family.
Am J Med Genet A. 2008 Dec 1;146A(23):3086-9.