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PMID- 29258540
OWN - NLM
STAT- MEDLINE
DCOM- 20171229
LR  - 20171231
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Dec 19
TI  - Whole-exome sequencing identified a missense mutation in WFS1 causing
      low-frequency hearing loss: a case report.
PG  - 151
LID - 10.1186/s12881-017-0511-7 [doi]
AB  - BACKGROUND: Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare,
      inherited disorder. Here, we report a family with LF-NSHL in whom a missense
      mutation was found in the Wolfram syndrome 1 (WFS1) gene. CASE PRESENTATION:
      Family members underwent audiological and imaging evaluations, including pure
      tone audiometry and temporal bone computed tomography. Blood samples were
      collected from two affected and two unaffected subjects. To determine the genetic
      background of hearing loss in this family, genetic analysis was performed using
      whole-exome sequencing. Among 553 missense variants, c.2419A --> C (p.Ser807Arg) 
      in WFS1 remained after filtering and inspection of whole-exome sequencing data.
      This missense mutation segregated with affected status and demonstrated an
      alteration to an evolutionarily conserved amino acid residue. Audiological
      evaluation of the affected subjects revealed nonprogressive LF-NSHL, with early
      onset at 10 years of age, but not to a profound level. CONCLUSION: This is the
      second report to describe a pathological mutation in WFS1 among Korean patients
      and the second to describe the mutation in a different ethnic background. Given
      that the mutation was found in independent families, p.S807R possibly appears to 
      be a "hot spot" in WFS1, which is associated with LF-NSHL.
FAU - Choi, Hye Ji
AU  - Choi HJ
AD  - Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical
      Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Lee, Joon Suk
AU  - Lee JS
AD  - Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences,
      Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Yu, Seyoung
AU  - Yu S
AD  - Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences,
      Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Cha, Do Hyeon
AU  - Cha DH
AD  - Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences,
      Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Gee, Heon Yung
AU  - Gee HY
AD  - Department of Pharmacology, Brain Korea 21 PLUS Project for Medical Sciences,
      Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Choi, Jae Young
AU  - Choi JY
AD  - Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical
      Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea.
FAU - Lee, Jong Dae
AU  - Lee JD
AD  - Department of Otorhinolaryngology, Soonchunhyang University College of Medicine, 
      Bucheon, South Korea. [email protected]
FAU - Jung, Jinsei
AU  - Jung J
AUID- ORCID: 0000-0003-1906-6969
AD  - Department of Otorhinolaryngology, Brain Korea 21 PLUS Project for Medical
      Sciences, Yonsei University College of Medicine, Seoul, 03722, South Korea.
      [email protected]
AD  - Yonsei University College of Medicine, 134 Sinchon-dong, Seodaemun-gu, Seoul,
      120-752, South Korea. [email protected]
LA  - eng
GR  - HI16C0142/Korea Health Technology R&D Project, Ministry of Health &
      Welfare, Republic of Korea/International
GR  - None/Soonchunhyang University Research Fund/International
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20171219
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (Membrane Proteins)
RN  - 0 (wolframin protein)
RN  - Nonsyndromic Deafness
SB  - IM
MH  - Adolescent
MH  - Asian Continental Ancestry Group/genetics
MH  - Audiometry
MH  - Deafness/*genetics
MH  - Female
MH  - Hearing Loss, Bilateral/*genetics
MH  - Humans
MH  - Male
MH  - Membrane Proteins/*genetics
MH  - Middle Aged
MH  - Mutation, Missense/*genetics
MH  - Republic of Korea
MH  - Temporal Bone/diagnostic imaging
MH  - Tomography, X-Ray Computed
MH  - Whole Exome Sequencing
PMC - PMC5735594
OTO - NOTNLM
OT  - *Autosomal dominant
OT  - *Low-frequency hearing loss
OT  - *Nonsyndromic hearing loss
OT  - *WFS1
EDAT- 2017/12/21 06:00
MHDA- 2017/12/30 06:00
CRDT- 2017/12/21 06:00
PHST- 2017/07/03 00:00 [received]
PHST- 2017/12/08 00:00 [accepted]
PHST- 2017/12/21 06:00 [entrez]
PHST- 2017/12/21 06:00 [pubmed]
PHST- 2017/12/30 06:00 [medline]
AID - 10.1186/s12881-017-0511-7 [doi]
AID - 10.1186/s12881-017-0511-7 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Dec 19;18(1):151. doi: 10.1186/s12881-017-0511-7.