Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family

Saved in:
Bibliographic Details
Published inActa ophthalmologica (Oxford, England) Vol. 90; no. 6; pp. e501 - e502
Main Authors You, Tian, Lv, Yuan, Liu, Shuqun, Li, Fei, Zhao, Yan, Lv, Jingyu, Qiu, Guangrong, Li-Ling, Jesse
Format Journal Article
LanguageEnglish
Published Oxford, UK Blackwell Publishing Ltd 01.09.2012
Subjects
Anophthalmos - genetics
Asian Continental Ancestry Group - genetics
Child
China - epidemiology
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Microphthalmos - genetics
Middle Aged
Mutation
Otx Transcription Factors - genetics
China
Online AccessGet full text
ISSN1755-375X
1755-3768
1755-3768
DOI10.1111/j.1755-3768.2011.02345.x

Cover

Author You, Tian
Li-Ling, Jesse
Lv, Jingyu
Li, Fei
Lv, Yuan
Zhao, Yan
Liu, Shuqun
Qiu, Guangrong
Author_xml – sequence: 1
  givenname: Tian
  surname: You
  fullname: You, Tian
  organization: Department of Emergency Medicine, The First Affiliated Hospital of China Medical University, Shenyang, China
– sequence: 2
  givenname: Yuan
  surname: Lv
  fullname: Lv, Yuan
  organization: Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, China
– sequence: 3
  givenname: Shuqun
  surname: Liu
  fullname: Liu, Shuqun
  organization: Laboratory for Conservation and Utilization of Bio-Resources & Key Laboratory for Microbial Resources of the Ministry of Education, Yunnan University, Kunming, China
– sequence: 4
  givenname: Fei
  surname: Li
  fullname: Li, Fei
  organization: Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, China
– sequence: 5
  givenname: Yan
  surname: Zhao
  fullname: Zhao, Yan
  organization: Department of Genetics, Shenyang Women's and Children's Hospital, Shenyang, China
– sequence: 6
  givenname: Jingyu
  surname: Lv
  fullname: Lv, Jingyu
  organization: Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, China
– sequence: 7
  givenname: Guangrong
  surname: Qiu
  fullname: Qiu, Guangrong
  organization: Department of Medical Genetics, School of Basic Medicine, China Medical University, Shenyang, China
– sequence: 8
  givenname: Jesse
  surname: Li-Ling
  fullname: Li-Ling, Jesse
  organization: Department of Emergency Medicine, The First Affiliated Hospital of China Medical University, Shenyang, China
BackLink https://www.ncbi.nlm.nih.gov/pubmed/22268617$$D View this record in MEDLINE/PubMed
BookMark eNqNUstu3CAURVWq5tH-QsWyG7s8jb1opXTUJlGjTKU8dwhj3GGK8cQwzczfB9fpKMoqbO6Dcw5wLodgz_feAAAxynFan5c5FpxnVBRlThDGOSKU8XzzBhzsNvZ2Ob_bB4chLBEqcFGwd2CfEFKUBRYHoL3o_xoH51d3BHbrqKLtPVQh9NqqaBr4YOMC6t7_Nt5G5aDy_WoRF8p1VqWigZ3Vw7OWTWx4qjycLaw3wcBWddZt34O3rXLBfHiKR-D6x_er2Wl2Pj85mx2fZ5pxwbOy4rUgXFBSVEWLG85whTkzquJap_syjQ2nomrLuqp5KlBjKKKM1hSTSjT0CHyadFdDf782IcrOBm2cU9706yCTeaziiDOUoB-foOu6M41cDbZTw1b-9yYBygmQHhjCYNodBKNRCMulHB2Wo9tyHIP8Nwa5SdSvL6jaTt7GQVn3GoEvk8CDdWb76oPl8fxyzBI_m_g2RLPZ8dXwRxYi_Qh5e3Eif83QzU9xcym_0Ufj5K9a
CitedBy_id crossref_primary_10_1080_09286586_2020_1862244
crossref_primary_10_1210_er_2016_1101
crossref_primary_10_1016_j_exer_2013_03_007
crossref_primary_10_1038_s10038_018_0504_1
crossref_primary_10_1002_ajmg_a_40352
Cites_doi 10.1093/bioinformatics/bti770
10.1136/bjo.2009.173500
10.1210/jc.2008-1189
ContentType Journal Article
Copyright Copyright © 2012 Acta Ophthalmologica Scandinavica Foundation
Copyright_xml – notice: Copyright © 2012 Acta Ophthalmologica Scandinavica Foundation
DBID BSCLL
AAYXX
CITATION
CGR
CUY
CVF
ECM
EIF
NPM
7X8
DOI 10.1111/j.1755-3768.2011.02345.x
DatabaseName Istex
CrossRef
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
MEDLINE - Academic
DatabaseTitle CrossRef
MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
MEDLINE - Academic
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
DeliveryMethod fulltext_linktorsrc
Discipline Medicine
EISSN 1755-3768
EndPage e502
ExternalDocumentID 22268617
10_1111_j_1755_3768_2011_02345_x
AOS2345
ark_67375_WNG_PC0VK7VS_B
Genre letter
Letter
Correspondence
GeographicLocations China
GeographicLocations_xml – name: China
GroupedDBID ---
.3N
.55
.GA
.Y3
05W
0R~
10A
1OC
23M
24P
31~
33P
36B
3SF
4.4
50Y
50Z
51W
51X
52M
52N
52O
52P
52R
52S
52T
52U
52V
52W
52X
53G
5GY
5HH
5LA
5VS
66C
702
7PT
8-0
8-1
8-3
8-4
8-5
8UM
930
A01
A03
AAESR
AAEVG
AAHHS
AANLZ
AAONW
AASGY
AAXRX
AAZKR
ABCUV
ABDBF
ABEML
ABJNI
ABPVW
ABQWH
ABXGK
ACAHQ
ACCFJ
ACCZN
ACGFS
ACGOF
ACMXC
ACNCT
ACPOU
ACPRK
ACSCC
ACXBN
ACXQS
ADBBV
ADBTR
ADEOM
ADIZJ
ADKYN
ADMGS
ADOZA
ADXAS
ADZMN
ADZOD
AEEZP
AEIGN
AEIMD
AENEX
AEQDE
AEUQT
AEUYR
AFBPY
AFFPM
AFGKR
AFPWT
AFRAH
AFZJQ
AHBTC
AHMBA
AIACR
AITYG
AIURR
AIWBW
AJBDE
ALAGY
ALMA_UNASSIGNED_HOLDINGS
ALUQN
AMBMR
AMYDB
ASPBG
ATUGU
AVWKF
AZBYB
AZFZN
AZVAB
BAFTC
BAWUL
BFHJK
BHBCM
BMXJE
BROTX
BRXPI
BSCLL
BY8
C45
CAG
COF
CS3
D-6
D-7
D-E
D-F
DCZOG
DIK
DPXWK
DR2
DRFUL
DRMAN
DRSTM
E3Z
EAD
EAP
EBC
EBD
EBS
EJD
EMB
EMK
EMOBN
ESX
EX3
F00
F01
F04
F5P
FIJ
FUBAC
G-S
GODZA
H.X
HF~
HGLYW
HZI
HZ~
IPNFZ
IX1
J0M
K48
KBYEO
LATKE
LC2
LC3
LEEKS
LH4
LITHE
LOXES
LP6
LP7
LUTES
LW6
LYRES
MEWTI
MK4
MRFUL
MRMAN
MRSTM
MSFUL
MSMAN
MSSTM
MXFUL
MXMAN
MXSTM
N04
N05
N9A
NF~
O66
O9-
OIG
OK1
OVD
P2W
P2X
P2Z
P4B
P4D
P6G
PQQKQ
Q.N
Q11
QB0
R.K
RIWAO
RJQFR
ROL
RX1
SUPJJ
SV3
TEORI
TR2
TUS
UB1
V9Y
W8V
W99
WBKPD
WHWMO
WIH
WIJ
WIK
WIN
WOHZO
WOW
WQJ
WRC
WVDHM
WXI
WXSBR
X7M
XG1
~IA
~WT
AAHQN
AAIPD
AAMNL
AAYCA
ACUHS
AFWVQ
ALVPJ
AAYXX
AEYWJ
AGHNM
AGYGG
CITATION
AAMMB
AEFGJ
AGXDD
AIDQK
AIDYY
CGR
CUY
CVF
ECM
EIF
NPM
1OB
7X8
ID FETCH-LOGICAL-c4575-895b725732696f1d5419154ea95cc6174c1e5379f8b9b5c1e0de30343b31297d3
IEDL.DBID DR2
ISSN 1755-375X
1755-3768
IngestDate Fri Sep 05 08:31:01 EDT 2025
Mon Jul 21 06:00:19 EDT 2025
Tue Jul 01 00:24:33 EDT 2025
Thu Apr 24 22:56:47 EDT 2025
Wed Jan 22 16:32:33 EST 2025
Wed Oct 30 09:52:30 EDT 2024
IsDoiOpenAccess false
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 6
Language English
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c4575-895b725732696f1d5419154ea95cc6174c1e5379f8b9b5c1e0de30343b31297d3
Notes ark:/67375/WNG-PC0VK7VS-B
istex:D79F4460A308CFE6CDC14212B3471FFC070F497E
ArticleID:AOS2345
Authors who have contributed equally to this study.
content type line 23
SourceType-Scholarly Journals-1
ObjectType-Correspondence-1
OpenAccessLink https://onlinelibrary.wiley.com/doi/pdfdirect/10.1111/j.1755-3768.2011.02345.x
PMID 22268617
PQID 1114950540
PQPubID 23479
PageCount 2
ParticipantIDs proquest_miscellaneous_1114950540
pubmed_primary_22268617
crossref_primary_10_1111_j_1755_3768_2011_02345_x
crossref_citationtrail_10_1111_j_1755_3768_2011_02345_x
wiley_primary_10_1111_j_1755_3768_2011_02345_x_AOS2345
istex_primary_ark_67375_WNG_PC0VK7VS_B
ProviderPackageCode CITATION
AAYXX
PublicationCentury 2000
PublicationDate 2012-09
September 2012
2012-09-00
2012-Sep
20120901
PublicationDateYYYYMMDD 2012-09-01
PublicationDate_xml – month: 09
  year: 2012
  text: 2012-09
PublicationDecade 2010
PublicationPlace Oxford, UK
PublicationPlace_xml – name: Oxford, UK
– name: England
PublicationTitle Acta ophthalmologica (Oxford, England)
PublicationTitleAlternate Acta Ophthalmol
PublicationYear 2012
Publisher Blackwell Publishing Ltd
Publisher_xml – name: Blackwell Publishing Ltd
References Diaczok D, Romero C, Zunich J, Marshall I & Radovick S (2008): A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab 93: 4351-4359.
Arnold K, Bordoli L, Kopp J & Schwede T (2006): The SWISS-MODEL Workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22: 195-201.
Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z & Zenteno JC (2010): Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol 94: 1100-1104.
2010; 94
2006; 22
2008; 93
e_1_2_2_4_1
e_1_2_2_2_1
e_1_2_2_3_1
References_xml – reference: Arnold K, Bordoli L, Kopp J & Schwede T (2006): The SWISS-MODEL Workspace: a web-based environment for protein structure homology modelling. Bioinformatics 22: 195-201.
– reference: Gonzalez-Rodriguez J, Pelcastre EL, Tovilla-Canales JL, Garcia-Ortiz JE, Amato-Almanza M, Villanueva-Mendoza C, Espinosa-Mattar Z & Zenteno JC (2010): Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol 94: 1100-1104.
– reference: Diaczok D, Romero C, Zunich J, Marshall I & Radovick S (2008): A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency. J Clin Endocrinol Metab 93: 4351-4359.
– volume: 94
  start-page: 1100
  year: 2010
  end-page: 1104
  article-title: Mutational screening of , , , and genes in 50 unrelated microphthalmia‐anophthalmia‐coloboma (MAC) spectrum cases
  publication-title: Br J Ophthalmol
– volume: 22
  start-page: 195
  year: 2006
  end-page: 201
  article-title: The SWISS‐MODEL Workspace: a web‐based environment for protein structure homology modelling
  publication-title: Bioinformatics
– volume: 93
  start-page: 4351
  year: 2008
  end-page: 4359
  article-title: A novel dominant negative mutation of associated with combined pituitary hormone deficiency
  publication-title: J Clin Endocrinol Metab
– ident: e_1_2_2_2_1
  doi: 10.1093/bioinformatics/bti770
– ident: e_1_2_2_4_1
  doi: 10.1136/bjo.2009.173500
– ident: e_1_2_2_3_1
  doi: 10.1210/jc.2008-1189
SSID ssj0061664
Score 2.0070648
SourceID proquest
pubmed
crossref
wiley
istex
SourceType Aggregation Database
Index Database
Enrichment Source
Publisher
StartPage e501
SubjectTerms Anophthalmos - genetics
Asian Continental Ancestry Group - genetics
Child
China - epidemiology
Family Health
Female
Humans
Magnetic Resonance Imaging
Male
Microphthalmos - genetics
Middle Aged
Mutation
Otx Transcription Factors - genetics
Title Novel OTX2 mutation associated with congenital anophthalmia and microphthalmia in a Han Chinese family
URI https://api.istex.fr/ark:/67375/WNG-PC0VK7VS-B/fulltext.pdf
https://onlinelibrary.wiley.com/doi/abs/10.1111%2Fj.1755-3768.2011.02345.x
https://www.ncbi.nlm.nih.gov/pubmed/22268617
https://www.proquest.com/docview/1114950540
Volume 90
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3db9MwED-hTUK88A0LH5OREG-p8uWPPLaDUoHWIfZB3yzbcbSpbTqtLZr467lL0kCnPUyIt9jSWfHlzv6dffkdwPtYyKhQpQuFzGyYudiEVikf5iqyNolwQ655Cg7HYnSafZnwSZv_RP_CNPwQ3YEbeUa9XpODG7vcdnLJOTmIapk4kzTjPcKTlLpF-Oh7xyQlYlEzSbUifHIjqee2gbZ2ql1S-vVtMHQb1dbb0vARTDcTarJRpr31yvbcrxtcj_9nxo_hYYteWb8xtydwz1dP4f5hez__DMrx4qefsaOTScLm6-aWn5nWAnzB6NSXYQSOVkvFSpipFpfnq3Mzm18YbBRsTvmBf7ouUJqNTMWozLdfetacxzyH0-Gnk4NR2FZyCF2GeDBUObcSFwfEirko44JnGCbyzJucO4cYCm3E81TmpbK55diICo97a5baFPGILNIXsFMtKr8HTBqvvCwSl2Cg51RkUmm4E1JE1hWllQHIzVfTrqU5p2obM_1XuINq1KRGTWrUtRr1dQBxJ3nZUH3cQeZDbRidgLmaUqqc5PrH-LP-dhCdfZVnx3oQwLuN5Wh0YLqVMZVfrJc0PgaphJwDeNmYVDcagjehUD8BiNow7vxeun90TE-v_lXwNTzA7qTJpnsDO6urtX-L8Gtl92G3P_g4GO7XDvYbWNoeqQ
linkProvider Wiley-Blackwell
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV3db9NADLfQJgEvfDPC-DgkxFuqfN1HHsdgFLZ2iHWjb6e7y0Wb1qbT1k4Tfz12kgY67WFCvOWi-JRz7PPPPscGeB8LGRWqdKGQmQ0zF5vQKuXDXEXWJhEa5LpOwWAo-ofZtzEft-2A6F-Ypj5EF3Ajzaj3a1JwCkivarnknDREtaU4kzTjPQSU69Tgm7T004-ulpSIRV1LqqXh42tpPTfNtGKr1ontVzcB0VVcWxumnYcwWS6pyUc57S3mtud-Xav2-J_W_AgetACWbTUS9xju-OoJ3B20R_RPoRzOLv2E7Y_GCZsumoN-Zloh8AWjwC9DJxwFl_qVMFPNzo7nx2YyPTE4KNiUUgT_3DpBatY3FaNO3_7CsyYk8wwOdz6Ptvth28whdBlCwlDl3ErcHxAu5qKMC56hp8gzb3LuHMIoFBPPU5mXyuaW4yAqPJrXLLUpQhJZpM9hrZpV_gUwabzyskhcgr6eU5FJpeFOSBFZV5RWBiCXn027ttI5NdyY6L88HmSjJjZqYqOu2aivAog7yrOm2sctaD7UktERmPNTypaTXP8cftHft6OjXXl0oD8G8G4pOhp1mA5mTOVniwuaH_1UAs8BbDQy1c2G-E0o5E8AopaMW7-X3to_oKuX_0r4Fu71R4M9vfd1uLsJ9_GRpEmuewVr8_OFf41obG7f1Fr2G0PDIVA
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwrV1Zb9NAEF6hVqp44T7MuUiIN0c-9vJjaQmB0rSiB3lb7WW1SuJEbYIqfj0ztmNI1YcK8ea1PCvveGb3m93xN4S8T4VMvCpdLCSzMXOpia1SIS5UYm2WwIJc8xTsD8XghH0d8VGb_4T_wjT8EN2GG3pGPV-jg899ue7kknN0ENUycWY54z3Ak5tMJAoDsd3vHZWUSEVNJdXK8NG1rJ6belpbqjZR61c34dB1WFuvS_37ZLwaUZOOMu4tF7bnfl0je_w_Q35A7rXwlW439vaQ3AnVI7K13x7QPyblcPYzTOjB8Sij02VzzE9NawLBU9z2pRCCg9litRJqqtn8bHFmJtNzAw1Pp5gg-OfWOUjTgako1vkOl4E2GzJPyEn_0_HOIG5LOcSOASCMVcGthNkBwGIhytRzBnEiZ8EU3DkAUWAkgeeyKJUtLIdG4gMsriy3OQAS6fOnZKOaVeE5odIEFaTPXAaRnlOJyaXhTkiRWOdLKyMiV19Nu5bnHMttTPRf8Q6oUaMaNapR12rUVxFJO8l5w_VxC5kPtWF0AuZijLlykusfw8_6cCc53ZOnR_pjRN6tLEeDB-OxjKnCbHmJ_UOUitA5Is8ak-p6A_QmFOgnIqI2jFu_l94-OMKrF_8q-JZsHe729bcvw72X5C48kTWZda_IxuJiGV4DFFvYN7WP_QbJ3yAI
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Novel+OTX2+mutation+associated+with+congenital+anophthalmia+and+microphthalmia+in+a+Han+Chinese+family&rft.jtitle=Acta+ophthalmologica+%28Oxford%2C+England%29&rft.au=You%2C+Tian&rft.au=Lv%2C+Yuan&rft.au=Liu%2C+Shuqun&rft.au=Li%2C+Fei&rft.date=2012-09-01&rft.issn=1755-375X&rft.eissn=1755-3768&rft.volume=90&rft.issue=6&rft_id=info:doi/10.1111%2Fj.1755-3768.2011.02345.x&rft.externalDBID=n%2Fa&rft.externalDocID=10_1111_j_1755_3768_2011_02345_x
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1755-375X&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1755-375X&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1755-375X&client=summon