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Identification of two novel pathogenic compound heterozygous MYO7A mutations in Usher syndrome by whole exome sequencing.

Abstract The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c.5994G>A) located near the boundary of exon could cause aberrant splicing. This study provides a meaningful exploration for identification of clinical core genetic pedigrees.
PMID
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Authors

Mayor MeshTerms
Keywords

MYO7A

Usher syndrome

Whole exome sequencing

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29287864
OWN - NLM
STAT- In-Process
LR  - 20171230
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 104
DP  - 2018 Jan
TI  - Identification of two novel pathogenic compound heterozygous MYO7A mutations in
      Usher syndrome by whole exome sequencing.
PG  - 186-190
LID - S0165-5876(17)30563-3 [pii]
LID - 10.1016/j.ijporl.2017.11.020 [doi]
AB  - The current study aims to identify the pathogenic sites in a core pedigree of
      Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome
      sequencing (WES). Mutations were verified by polymerase chain reaction (PCR)
      amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and
      c.5994G>A) in MYO7A were successfully identified and individually separated from 
      parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein
      terminated in advance, and the other one (c.5994G>A) located near the boundary of
      exon could cause aberrant splicing. This study provides a meaningful exploration 
      for identification of clinical core genetic pedigrees.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Jia, Ying
AU  - Jia Y
AD  - Department of Neurosurgery, Tianjin Medical University General Hospital, Tianjin,
      China.
FAU - Li, Xiaoge
AU  - Li X
AD  - Department of Pediatrics, Tianjin Jinnan Small Station Hospital, Tianjin, China.
FAU - Yang, Dong
AU  - Yang D
AD  - Department of Otorhinolaryngology, Tianjin Medical University General Hospital,
      Tianjin, China. Electronic address: [email protected]
FAU - Xu, Yi
AU  - Xu Y
AD  - Department of Otorhinolaryngology, Tianjin Medical University General Hospital,
      Tianjin, China.
FAU - Guo, Ying
AU  - Guo Y
AD  - Department of Otorhinolaryngology, Tianjin Medical University General Hospital,
      Tianjin, China.
FAU - Li, Xin
AU  - Li X
AD  - Department of Otorhinolaryngology, Beijing Tsinghua Changgung Hospital, Beijing, 
      China; School of Clinical Medicine, Tsinghua University, Beijing, China.
LA  - eng
PT  - Journal Article
DEP - 20171122
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
OTO - NOTNLM
OT  - MYO7A
OT  - Usher syndrome
OT  - Whole exome sequencing
EDAT- 2017/12/31 06:00
MHDA- 2017/12/31 06:00
CRDT- 2017/12/31 06:00
PHST- 2017/08/08 00:00 [received]
PHST- 2017/10/31 00:00 [revised]
PHST- 2017/11/19 00:00 [accepted]
PHST- 2017/12/31 06:00 [entrez]
PHST- 2017/12/31 06:00 [pubmed]
PHST- 2017/12/31 06:00 [medline]
AID - S0165-5876(17)30563-3 [pii]
AID - 10.1016/j.ijporl.2017.11.020 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2018 Jan;104:186-190. doi:
      10.1016/j.ijporl.2017.11.020. Epub 2017 Nov 22.