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The first sporadic case of DFNA11 identified by next-generation sequencing.

Abstract We report the first sporadic case of nonsyndromic autosomal dominant hearing loss (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss. Targeted next-generation sequencing analysis of patient DNA identified a known heterozygous DFNA11 mutation, c.689C > T, in MYO7A, encoding p.Ala230Val. The mutation was not detected in the parents of the patient and is considered to be de novo. This mutation is identical to the one reported previously in an Italian family. Accumulation of mutation data increases the feasibility of identifying autosomal dominant mutations in sporadic sensorineural hearing loss.
PMID
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Authors

Mayor MeshTerms
Keywords

DFNA11

MYO7A

Nonsyndromic hearing loss

Pediatric

de novo

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 28802369
OWN - NLM
STAT- MEDLINE
DA  - 20170813
DCOM- 20170907
LR  - 20170907
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 100
DP  - 2017 Sep
TI  - The first sporadic case of DFNA11 identified by next-generation sequencing.
PG  - 183-186
LID - S0165-5876(17)30320-8 [pii]
LID - 10.1016/j.ijporl.2017.07.007 [doi]
AB  - We report the first sporadic case of nonsyndromic autosomal dominant hearing loss
      (DFNA11). The patient was a 5-year-old boy with moderate bilateral hearing loss. 
      Targeted next-generation sequencing analysis of patient DNA identified a known
      heterozygous DFNA11 mutation, c.689C > T, in MYO7A, encoding p.Ala230Val. The
      mutation was not detected in the parents of the patient and is considered to be
      de novo. This mutation is identical to the one reported previously in an Italian 
      family. Accumulation of mutation data increases the feasibility of identifying
      autosomal dominant mutations in sporadic sensorineural hearing loss.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Kaneko, Yuka
AU  - Kaneko Y
AD  - Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, 
      Chiba City, Chiba, Japan; Department of Otolaryngology, Japanese Red Cross Narita
      Hospital, 90-1, Iida Town, Narita City, Chiba, Japan.
FAU - Nakano, Atsuko
AU  - Nakano A
AD  - Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, 
      Chiba City, Chiba, Japan.
FAU - Arimoto, Yukiko
AU  - Arimoto Y
AD  - Division of Otolaryngology, Chiba Children's Hospital, 579-1, Hetacho Midori-ku, 
      Chiba City, Chiba, Japan.
FAU - Nara, Kiyomitsu
AU  - Nara K
AD  - Division of Hearing and Balance Research, National Institute of Sensory Organs,
      National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, 
      Tokyo 1528902, Japan.
FAU - Mutai, Hideki
AU  - Mutai H
AD  - Division of Hearing and Balance Research, National Institute of Sensory Organs,
      National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, 
      Tokyo 1528902, Japan.
FAU - Matsunaga, Tatsuo
AU  - Matsunaga T
AD  - Division of Hearing and Balance Research, National Institute of Sensory Organs,
      National Hospital Organization Tokyo Medical Center, 2-5-1 Higashigaoka, Meguro, 
      Tokyo 1528902, Japan. Electronic address: [email protected]
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20170709
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - EC 3.6.4.1 (Myosins)
RN  - EC 3.6.4.1 (myosin VIIa)
RN  - Deafness, Autosomal Dominant 11
SB  - IM
MH  - Child, Preschool
MH  - Hearing Loss, Sensorineural/*genetics
MH  - Heterozygote
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Myosins/*genetics
MH  - Pedigree
OTO - NOTNLM
OT  - DFNA11
OT  - MYO7A
OT  - Nonsyndromic hearing loss
OT  - Pediatric
OT  - de novo
EDAT- 2017/08/15 06:00
MHDA- 2017/09/08 06:00
CRDT- 2017/08/14 06:00
PHST- 2017/01/07 [received]
PHST- 2017/07/06 [revised]
PHST- 2017/07/07 [accepted]
AID - S0165-5876(17)30320-8 [pii]
AID - 10.1016/j.ijporl.2017.07.007 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2017 Sep;100:183-186. doi:
      10.1016/j.ijporl.2017.07.007. Epub 2017 Jul 9.