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MYO15A splicing mutations in hearing loss: A review literature and report of a novel mutation.

Abstract Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an autosomal recessive mode of inheritance (ARNSHL). In the present study, we applied targeted-exome sequencing to a family with a single proband affected by congenital sensorineural hearing loss. 127 known genes were sequenced to find the causative mutation. One novel homozygous donor splice site mutation, c.4596 + 1G > A (IVS12 + 1G > A) was found in MYO15A gene. Analysis of this mutation within the family showed that the mutation segregates with hearing loss. New DNA sequencing technologies could lead to identification of the disease causing variants especially in highly heterogeneous disorders such as hearing loss.
PMID
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Authors

Mayor MeshTerms
Keywords

Hearing loss

Intronic mutations

MYO15A

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 28390610
OWN - NLM
STAT- MEDLINE
DA  - 20170409
DCOM- 20170517
LR  - 20170517
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 96
DP  - 2017 May
TI  - MYO15A splicing mutations in hearing loss: A review literature and report of a
      novel mutation.
PG  - 35-38
LID - S0165-5876(17)30099-X [pii]
LID - 10.1016/j.ijporl.2017.03.008 [doi]
AB  - Sensorineural hearing loss (SNHL) is the most prevalent genetic sensory defect in
      humans, affecting about 1 in 1000 newborns around the world. Non-syndromic SNHL
      accounts for nearly 70% of hereditary hearing loss and 80% of SNHL cases show an 
      autosomal recessive mode of inheritance (ARNSHL). In the present study, we
      applied targeted-exome sequencing to a family with a single proband affected by
      congenital sensorineural hearing loss. 127 known genes were sequenced to find the
      causative mutation. One novel homozygous donor splice site mutation, c.4596 + 1G 
      > A (IVS12 + 1G > A) was found in MYO15A gene. Analysis of this mutation within
      the family showed that the mutation segregates with hearing loss. New DNA
      sequencing technologies could lead to identification of the disease causing
      variants especially in highly heterogeneous disorders such as hearing loss.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Motavaf, Mahsa
AU  - Motavaf M
AD  - Department of Molecular Genetics, Faculty of Biological Sciences, Tarbiat Modares
      University, Tehran, Iran.
FAU - Soveizi, Mahdieh
AU  - Soveizi M
AD  - Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, 
      Iran University of Medical Sciences, Tehran, Iran.
FAU - Maleki, Majid
AU  - Maleki M
AD  - Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, 
      Iran University of Medical Sciences, Tehran, Iran.
FAU - Mahdieh, Nejat
AU  - Mahdieh N
AD  - Genetics Research Laboratory, Rajaie Cardiovascular Medical and Research Center, 
      Iran University of Medical Sciences, Tehran, Iran. Electronic address:
      [email protected]
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20170306
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - 0 (MYO15A protein, human)
RN  - EC 3.6.4.1 (Myosins)
SB  - IM
MH  - Exome
MH  - Female
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Homozygote
MH  - Humans
MH  - Mutation
MH  - Myosins/*genetics
MH  - Pedigree
MH  - RNA Splicing/genetics
MH  - Sequence Analysis, DNA
OTO - NOTNLM
OT  - *Hearing loss
OT  - *Intronic mutations
OT  - *MYO15A
EDAT- 2017/04/10 06:00
MHDA- 2017/05/18 06:00
CRDT- 2017/04/10 06:00
PHST- 2016/12/09 [received]
PHST- 2017/02/27 [revised]
PHST- 2017/03/02 [accepted]
AID - S0165-5876(17)30099-X [pii]
AID - 10.1016/j.ijporl.2017.03.008 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2017 May;96:35-38. doi:
      10.1016/j.ijporl.2017.03.008. Epub 2017 Mar 6.

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