Deafness, X-linked

Definition:

Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases of hereditary etiology and syndromic cases represent 30% of them. Among the forms of heritage, autosomal-recessive inheritance is the most frequent one (75%-85%), followed by autosomal-dominant inheritance (12-13%) and X-linked or mitochondrial, with 2-3% of the cases of non-syndromic hearing loss. X-linked deafness is clinically and genetically heterogeneous disorder. PRPS1 and POU3F4 have been identified as the genes to be implicated in X-linked non-syndromic hearing loss.

References:

[1]. Guangqian Xing, et al. GPRASP2, a novel causative gene mutated in an X-linked recessive syndromic hearing loss. J Med Genet. 2017 Jun;54(6):426-430. [Content Brief]

[2]. Hee Keun Lee, et al. Clinical and molecular characterizations of novel POU3F4 mutations reveal that DFN3 is due to null function of POU3F4 protein. Physiol Genomics. 2009 Nov 6;39(3):195-201. [Content Brief]

[3]. Liang Zong, et al. Mutations in apoptosis-inducing factor cause X-linked recessive auditory neuropathy spectrum disorder. J Med Genet. 2015 Aug;52(8):523-31. [Content Brief]

[4]. Nelly Abdelfatah, et al. A novel deletion in SMPX causes a rare form of X-linked progressive hearing loss in two families due to a founder effect. Hum Mutat. 2013 Jan;34(1):66-9. [Content Brief]

[5]. Simone Rost, et al. Novel form of X-linked nonsyndromic hearing loss with cochlear malformation caused by a mutation in the type IV collagen gene COL4A6. Eur J Hum Genet. 2014 Feb;22(2):208-15. [Content Brief]

[6]. Xuezhong Liu, et al. Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2. Am J Hum Genet. 2010 Jan;86(1):65-71. [Content Brief]

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