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TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.

Abstract To test candidate genes TSC1 and TSC2 in a family affected by tuberous sclerosis complex (TSC) where proband was also diagnosed with bilateral keratoconus (KC) and to test the hypothesis that defects in the same gene may lead to a nonsyndromic KC.
PMID
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Authors

Mayor MeshTerms

Mutation

Keywords
Journal Title investigative ophthalmology & visual science
Publication Year Start




PMID- 29261847
OWN - NLM
STAT- MEDLINE
DCOM- 20171229
LR  - 20171229
IS  - 1552-5783 (Electronic)
IS  - 0146-0404 (Linking)
VI  - 58
IP  - 14
DP  - 2017 Dec 1
TI  - TSC1 Mutations in Keratoconus Patients With or Without Tuberous Sclerosis.
PG  - 6462-6469
LID - 10.1167/iovs.17-22819 [doi]
AB  - Purpose: To test candidate genes TSC1 and TSC2 in a family affected by tuberous
      sclerosis complex (TSC) where proband was also diagnosed with bilateral
      keratoconus (KC) and to test the hypothesis that defects in the same gene may
      lead to a nonsyndromic KC. Methods: Next-generation sequencing of TSC1 and TSC2
      genes was performed in a proband affected by TSC and KC. Identified mutation was 
      confirmed by Sanger DNA sequencing. Whole exome sequencing (WES) was performed in
      patients with nonsyndromic KC. Sanger DNA sequencing was used to confirm WES
      results and to screen additional patients. RT-PCR was used to investigate TSC1
      expression in seven normal human corneas and eight corneas from patients with KC.
      Various in silico tools were employed to model functional consequences of
      identified mutations. Results: A heterozygous nonsense TSC1 mutation
      g.132902703C>T (c.2293C>T, p.Gln765Ter) was identified in a patient with TSC and 
      KC. Two heterozygous missense TSC1 variants g.132896322A>T (c.3408A>T,
      p.Asp1136Glu) and g.132896452G>A (c.3278G>A, p.Arg1093Gln) were identified in
      three patients with nonsyndromic KC. Two mutations were not present in The Genome
      Aggregation (GnomAD), The Exome Aggregation (ExAC), and 1000 Genomes (1000G)
      databases, while the third one was present in GnomAD and 1000G with minor allele 
      frequencies (MAF) of 0.00001 and 0.0002, respectively. We found TSC1 expressed in
      normal corneas and KC corneas, albeit with various levels. Conclusions: Here for 
      the first time we found TSC1 gene to be involved in bilateral KC and TSC as well 
      as with nonsyndromic KC, supporting the hypothesis that diverse germline
      mutations of the same gene can cause genetic disorders with overlapping clinical 
      features.
FAU - Bykhovskaya, Yelena
AU  - Bykhovskaya Y
AD  - Department of Surgery and Board of the Governors Regenerative Medicine Institute,
      Cedars-Sinai Medical Center, Los Angeles, California, United States.
AD  - Cornea Genetic Eye Institute, Beverly Hills, California, United States.
FAU - Fardaei, Majid
AU  - Fardaei M
AD  - Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz,
      Iran.
FAU - Khaled, Mariam Lotfy
AU  - Khaled ML
AD  - Department of Cellular Biology and Anatomy, Augusta University, Augusta, Georgia,
      United States.
FAU - Nejabat, Mahmood
AU  - Nejabat M
AD  - Poostchi Ophthalmology Research Center, Department of Ophthalmology, Shiraz
      University of Medical Sciences, Shiraz, Iran.
FAU - Salouti, Ramin
AU  - Salouti R
AD  - Poostchi Ophthalmology Research Center, Department of Ophthalmology, Shiraz
      University of Medical Sciences, Shiraz, Iran.
FAU - Dastsooz, Hassan
AU  - Dastsooz H
AD  - Comprehensive Medical Genetics Center, Shiraz University of Medical Sciences,
      Shiraz, Iran.
FAU - Liu, Yutao
AU  - Liu Y
AD  - Department of Cellular Biology and Anatomy, Augusta University, Augusta, Georgia,
      United States.
FAU - Inaloo, Soroor
AU  - Inaloo S
AD  - Department of Pediatrics, Shiraz University of Medical Sciences, Shiraz, Iran.
FAU - Rabinowitz, Yaron S
AU  - Rabinowitz YS
AD  - Department of Surgery and Board of the Governors Regenerative Medicine Institute,
      Cedars-Sinai Medical Center, Los Angeles, California, United States.
AD  - Cornea Genetic Eye Institute, Beverly Hills, California, United States.
AD  - The Jules Stein Eye Institute, University of California-Los Angeles, Los Angeles,
      California, United States.
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (Tumor Suppressor Proteins)
RN  - 0 (tuberous sclerosis complex 1 protein)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Child, Preschool
MH  - DNA/*genetics
MH  - DNA Mutational Analysis
MH  - Female
MH  - Humans
MH  - Keratoconus/complications/*genetics/metabolism
MH  - Male
MH  - Microscopy, Acoustic
MH  - *Mutation
MH  - Pedigree
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Tomography, X-Ray Computed
MH  - Tuberous Sclerosis/complications/diagnosis/*genetics
MH  - Tumor Suppressor Proteins/*genetics/metabolism
EDAT- 2017/12/21 06:00
MHDA- 2017/12/30 06:00
CRDT- 2017/12/21 06:00
PHST- 2017/12/21 06:00 [entrez]
PHST- 2017/12/21 06:00 [pubmed]
PHST- 2017/12/30 06:00 [medline]
AID - 2667313 [pii]
AID - 10.1167/iovs.17-22819 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2017 Dec 1;58(14):6462-6469. doi:
      10.1167/iovs.17-22819.