Hearing loss (HL) is the most common sensory defected disease and currently disables 466 million people across the world. This illness also affects newborns severely. Approximately 1-3 babies are persecuted in every 1000 newborns worldwide. There are lots of reasons for HL, such as Cranio-facial abnormalities and congenital infections, but half of HL patients are attributed to genetic factors. HL disease could be divided into the syndromic and the non-syndromic according to the accompanying signs and symptoms. Non-syndromic hearing loss (NSHL) accounts for a large proportion of HL. NSHL is caused by multiple pathogenic factors. It broadly separates into different modes of inheritance, including autosomal recessive (AR), autosomal dominant (AD), X-linked and mitochondrial. The mutations of hearing loss-related genes will lead to protein inactivation and abnormal signaling pathways, thus resulting in the only clinical symptom: hearing loss.
It's reported that non-syndromic hearing loss has no malformations of the external ear or any related medical problems, however, it may be associated with abnormalities of the middle ear and/or inner ear. NSHL has four typical modes of inheritance. The inheritance pattern among the disorders with prelingual non-syndromic hearing loss is 80%. ACTG1, CD164, GJB2 KCNQ4, and WFS1 are related to autosomal dominant non-syndromic hearing impairment, most of which can cause post-lingual hearing impairments. Autosomal recessive non-syndromic deafness also has extreme genetic heterogeneity. GJB2 is one of the typical genes. It possesses high-frequency of pathogenic variants. PRPS1, POU3F4, SMPX, AIFM1 and COL4A6 are X-linked non-syndromic hearing impairment-related genes. They can be either pre- or post-lingual. Most of the pathogenic variants in mitochondrial genes result in an extensive spectrum of maternally inherited multisystem disorders. However, mitochondrial non-syndromic hearing impairment is caused by the mutations in MT-RNR1, MT-TS1 and MT-CO1. The MT-CO1 mutations present extremely severe symptoms. The other two genes have many mutations of varying severity.
Hearing loss related genes are abundant and their mutations are complicated. Targeted sequencing will help you accelerate your biology researches on hearing loss. Our platform provides targeted DNA sequencing by the Illumina MiSeq, and offers an abundant hearing loss research panel library. You can choose the genes you are interested in to detect the genetic variation information.
(Download the hearing loss gene list for more genes)
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