Gene ontology analysis of arthrogryposis (multiple congenital contractures)

被引:41
|
作者
Kiefer, Jeff [1 ]
Hall, Judith G. [2 ,3 ,4 ]
机构
[1] Syst Oncol, Scottsdale, AZ USA
[2] Univ British Columbia, Dept Med Genet, Vancouver, BC, Canada
[3] BC Childrens Hosp, Vancouver, BC, Canada
[4] Univ British Columbia, Dept Pediat, Vancouver, BC, Canada
关键词
arthrogryposis; developmental pathways; enrichment analysis; gene ontology; multiple congenital contractures; ETIOLOGY;
D O I
10.1002/ajmg.c.31733
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
In 2016, we published an article applying Gene Ontology Analysis to the genes that had been reported to be associated with arthrogryposis (multiple congenital contractures) (Hall & Kiefer, 2016). At that time, 320 genes had been reported to have mutations associated with arthrogryposis. All were associated with decreased fetal movement. These 320 genes were analyzed by biological process and cellular component categories, and yielded 22 distinct groupings. Since that time, another 82 additional genes have been reported, now totaling 402 genes, which when mutated, are associated with arthrogryposis (arthrogryposis multiplex congenita). So, we decided to update the analysis in order to stimulate further research and possible treatment. Now, 29 groupings can be identified, but only 19 groups have more than one gene.
引用
收藏
页码:310 / 326
页数:17
相关论文
共 50 条
  • [1] Multiple congenital contractures (congenital multiple arthrogryposis)
    Bonilla-Musoles, F
    Machado, LE
    Osborne, NG
    JOURNAL OF PERINATAL MEDICINE, 2002, 30 (01) : 99 - 104
  • [2] Arthrogryposis as a Syndrome: Gene Ontology Analysis
    Hall, Judith G.
    Kiefer, Jeff
    MOLECULAR SYNDROMOLOGY, 2016, 7 (03) : 101 - 109
  • [3] Arthrogryposis (Multiple Congenital Contractures) Associated With Failed Termination of Pregnancy
    Hall, Judith G.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (09) : 2214 - 2220
  • [4] Multiple Congenital Joint Contractures, Arthrogryposis Multiplex Congenita: A Case Report
    Baser, Oezguen Cakmak
    Ay, Saime
    Dogan, Sebnem Koldas
    Evcik, Deniz
    TURKISH JOURNAL OF RHEUMATOLOGY, 2009, 24 (04) : 228 - 231
  • [5] Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles
    Hall, Judith G.
    EUROPEAN JOURNAL OF MEDICAL GENETICS, 2014, 57 (08) : 464 - 472
  • [6] Prevalence of Multiple Congenital Contractures Including Arthrogryposis Multiplex Congenita in Alberta, Canada, and a Strategy for Classification and Coding
    Lowry, R. Brian
    Sibbald, Barbara
    Bedard, Tanya
    Hall, Judith G.
    BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 2010, 88 (12) : 1057 - 1061
  • [7] Multiple congenital contractures
    Vanpaemel, L
    Schoenmakers, M
    vanNesselrooij, B
    Pruijs, H
    Helders, P
    JOURNAL OF PEDIATRIC ORTHOPAEDICS-PART B, 1997, 6 (03): : 172 - 178
  • [8] Clinical and molecular characteristics of 26 fetuses with lethal multiple congenital contractures
    Turgut, Gozde Tutku
    Altunoglu, Umut
    Gulec, Cagri
    Sivrikoz, Tugba Sarac
    Kalayci, Tugba
    Toksoy, Guven
    Avci, Sahin
    Yildirim, Behiye Tugce
    Sayin, Gozde Yesil
    Kalelioglu, Ibrahim Halil
    Karaman, Birsen
    Has, Recep
    Basaran, Seher
    Yuksel, Atil
    Kayserili, Hulya
    Uyguner, Zehra Oya
    CLINICAL GENETICS, 2024, 105 (06) : 596 - 610
  • [9] Management of hip contractures and dislocations in arthrogryposis
    Stefano Stilli
    Diego Antonioli
    Manuele Lampasi
    Onofrio Donzelli
    MUSCULOSKELETAL SURGERY, 2012, 96 (1) : 17 - 21
  • [10] Treatment of Knee Flexion Contractures in Patients With Arthrogryposis
    van Bosse, Harold J. P.
    Feldman, David S.
    Anavian, Jack
    Sala, Debra A.
    JOURNAL OF PEDIATRIC ORTHOPAEDICS, 2007, 27 (08) : 930 - 937