PubTransformer

A site to transform Pubmed publications into these bibliographic reference formats: ADS, BibTeX, EndNote, ISI used by the Web of Knowledge, RIS, MEDLINE, Microsoft's Word 2007 XML.

Targeted next generation sequencing identified a novel mutation in MYO7A causing Usher syndrome type 1 in an Iranian consanguineous pedigree.

Abstract Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder.
PMID
Related Publications

Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome.

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Genetic analysis of a four generation Indian family with Usher syndrome: a novel insertion mutation in MYO7A.

Novel and recurrent MYO7A mutations in Usher syndrome type 1 and type 2.

Authors

Mayor MeshTerms
Keywords

MYO7A

Mutation

Targeted next generation sequencing

Usher syndrome

Journal Title international journal of pediatric otorhinolaryngology
Publication Year Start




PMID- 29287847
OWN - NLM
STAT- MEDLINE
DCOM- 20180116
LR  - 20180116
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 104
DP  - 2018 Jan
TI  - Targeted next generation sequencing identified a novel mutation in MYO7A causing 
      Usher syndrome type 1 in an Iranian consanguineous pedigree.
PG  - 10-13
LID - S0165-5876(17)30499-8 [pii]
LID - 10.1016/j.ijporl.2017.10.022 [doi]
AB  - BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and 
      retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait 
      with clinical and genetic heterogeneity which makes the molecular diagnosis much 
      difficult. In this study, we introduce a pedigree with two affected members with 
      USH type 1 and represent a cost and time effective approach for genetic diagnosis
      of USH as a genetically heterogeneous disorder. METHODS: Target region capture in
      the genes of interest, followed by next generation sequencing (NGS) was used to
      determine the causative mutations in one of the probands. Then segregation
      analysis in the pedigree was conducted using PCR-Sanger sequencing. RESULTS:
      Targeted NGS detected a novel homozygous nonsense variant c.4513G > T
      (p.Glu1505Ter) in MYO7A. The variant is segregating in the pedigree with an
      autosomal recessive pattern. CONCLUSION: In this study, a novel stop gained
      variant c.4513G > T (p.Glu1505Ter) in MYO7A was found in an Iranian pedigree with
      two affected members with USH type 1. Bioinformatic as well as pedigree
      segregation analyses were in line with pathogenic nature of this variant.
      Targeted NGS panel was showed to be an efficient method for mutation detection in
      hereditary disorders with locus heterogeneity.
CI  - Copyright (c) 2017 Elsevier B.V. All rights reserved.
FAU - Kooshavar, Daniz
AU  - Kooshavar D
AD  - Department of Medical Genetics, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Razipour, Masoumeh
AU  - Razipour M
AD  - Department of Medical Genetics, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran.
FAU - Movasat, Morteza
AU  - Movasat M
AD  - Eye Research Center, Farabi Eye Hospital, Tehran University of Medical Sciences, 
      Tehran, Iran.
FAU - Keramatipour, Mohammad
AU  - Keramatipour M
AD  - Department of Medical Genetics, School of Medicine, Tehran University of Medical 
      Sciences, Tehran, Iran. Electronic address: [email protected]
LA  - eng
PT  - Journal Article
DEP - 20171018
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
RN  - 0 (Codon, Nonsense)
RN  - EC 3.6.4.1 (Myosins)
RN  - EC 3.6.4.1 (myosin VIIa)
SB  - IM
MH  - Codon, Nonsense
MH  - Consanguinity
MH  - Female
MH  - High-Throughput Nucleotide Sequencing/*methods
MH  - Homozygote
MH  - Humans
MH  - Iran
MH  - Male
MH  - Mutation
MH  - Myosins/*genetics
MH  - Pedigree
MH  - Phenotype
MH  - Polymerase Chain Reaction
MH  - Usher Syndromes/*genetics
OTO - NOTNLM
OT  - MYO7A
OT  - Mutation
OT  - Targeted next generation sequencing
OT  - Usher syndrome
EDAT- 2017/12/31 06:00
MHDA- 2018/01/18 06:00
CRDT- 2017/12/31 06:00
PHST- 2017/09/03 00:00 [received]
PHST- 2017/10/13 00:00 [revised]
PHST- 2017/10/13 00:00 [accepted]
PHST- 2017/12/31 06:00 [entrez]
PHST- 2017/12/31 06:00 [pubmed]
PHST- 2018/01/18 06:00 [medline]
AID - S0165-5876(17)30499-8 [pii]
AID - 10.1016/j.ijporl.2017.10.022 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2018 Jan;104:10-13. doi:
      10.1016/j.ijporl.2017.10.022. Epub 2017 Oct 18.