Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations

American Journal of Human Genetics

Volumn 97, Issue 4, 2015, Pages 608-615

  Faden, Maha ^a   Alzahrani, Fatema ^b   Mendoza Londono, Roberto ^c   Dupuis, Lucie ^c   Hartley, Taila ^d   Kannu, Peter ^c   Raiman, Julian A ^c   Howard, Andrew ^c   Qin, Wen ^d   Tetreault, Martine ^e   Xi, Joan Qiongchao ^f   Al Thamer, Imadeddin ^a   Maas, Richard L ^f   Boycott, Kym ^d   Alkuraya, Fowzan S ^b,g  

^a King Saud Medical Complex ^*  (Saudi Arabia)

^b King Faisal and Research Center ^*  (Saudi Arabia)

^c HOSPITAL FOR SICK CHILDREN   (Canada)

^d CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^e MCGILL UNIVERSITY   (Canada)

^f BRIGHAM AND WOMEN S HOSPITAL   (United States)

^g ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

autozygome; craniosynostosis; exome; matchmaking; mucopolysaccharidosis; skeletal dysplasia

Indexed keywords

ADOLESCENT; ADULT; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BONE DEVELOPMENT; BONE DISEASE; BONE DYSPLASIA; BONE MALFORMATION; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DISEASE COURSE; EMBRYO; ENCHONDRAL OSSIFICATION; EXOME; FACE DYSMORPHIA; FEMALE; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NEWBORN; NONHUMAN; OSTEOBLAST; PERIOSTEUM; PHENOTYPE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RSPRY1 GENE; SCHOOL CHILD; SHORT STATURE; SPONDYLOEPIMETAPHYSEAL DYSPLASIA; YOUNG ADULT; ANIMAL; CASE REPORT; CHONDRODYSPLASIA; CONSANGUINITY; CYTOLOGY; DNA SEQUENCE; DWARFISM; GENETICS; HETEROTOPIC OSSIFICATION; HOMOZYGOTE; MAMMALIAN EMBRYO; METABOLISM; MUSCULOSKELETAL SYSTEM MALFORMATION; MUTATION; PATHOLOGY; PEDIGREE; RECESSIVE GENE;

ENDODEOXYRIBONUCLEASE BSPHI; TYPE II SITE SPECIFIC DEOXYRIBONUCLEASE;

ADOLESCENT; ANIMALS; BONE DISEASES, DEVELOPMENTAL; CHILD; CONSANGUINITY; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; DWARFISM; EMBRYO, MAMMALIAN; EXOME; FEMALE; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICE; MUSCULOSKELETAL ABNORMALITIES; MUTATION; OSSIFICATION, HETEROTOPIC; OSTEOBLASTS; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PERIOSTEUM; PHENOTYPE; SEQUENCE ANALYSIS, DNA;

EID: 84952717723     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.007     Document Type: Article

References (20)

1. D.A. Stevenson, J.C. Carey, J.L. Byrne, S. Srisukhumbowornchai, and M.L. Feldkamp Analysis of skeletal dysplasias in the Utah population Am. J. Med. Genet. A. 158A 2012 1046 1054
2. M.L. Warman, V. Cormier-Daire, C. Hall, D. Krakow, R. Lachman, M. LeMerrer, G. Mortier, S. Mundlos, G. Nishimura, D.L. Rimoin, and et al. Nosology and classification of genetic skeletal disorders: 2010 revision Am. J. Med. Genet. A. 155A 2011 943 968
3. B. Lehner Genotype to phenotype: lessons from model organisms for human genetics Nat. Rev. Genet. 14 2013 168 178
4. F.S. Alkuraya Natural human knockouts and the era of genotype to phenotype Genome Med. 7 2015 48
5. H.A. Stessman, R. Bernier, and E.E. Eichler A genotype-first approach to defining the subtypes of a complex disease Cell 156 2014 872 877
6. A.M. Alazami, N. Patel, H.E. Shamseldin, S. Anazi, M.S. Al-Dosari, F. Alzahrani, H. Hijazi, M. Alshammari, M.A. Aldahmesh, M.A. Salih, and et al. Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families Cell Rep. 10 2015 148 161
7. F. Alkuraya Saudi Mendeliome Group Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases Genome Biol. 16 2015 134
8. F.S. Alkuraya Autozygome decoded Genet. Med. 12 2010 765 771
9. F.S. Alkuraya Discovery of rare homozygous mutations from studies of consanguineous pedigrees Curr. Protoc. Hum. Genet. Chapter 6 2012 12
10. I.M. Carr, K.J. Flintoff, G.R. Taylor, A.F. Markham, and D.T. Bonthron Interactive visual analysis of SNP data for rapid autozygosity mapping in consanguineous families Hum. Mutat. 27 2006 1041 1046
11. T.H. Lindner, and K. Hoffmann easyLINKAGE: a PERL script for easy and automated two-/multi-point linkage analyses Bioinformatics 21 2005 405 407
12. S. Fahiminiya, J. Majewski, J. Mort, P. Moffatt, F.H. Glorieux, and F. Rauch Mutations in WNT1 are a cause of osteogenesis imperfecta J. Med. Genet. 50 2013 345 348
13. D.M. McDonald-McGinn, S. Fahiminiya, T. Revil, B.A. Nowakowska, J. Suhl, A. Bailey, E. Mlynarski, D.R. Lynch, A.C. Yan, L.T. Bilaniuk, and et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS J. Med. Genet. 50 2013 80 90
14. L.K. Povlsen, P. Beli, S.A. Wagner, S.L. Poulsen, K.B. Sylvestersen, J.W. Poulsen, M.L. Nielsen, S. Bekker-Jensen, N. Mailand, and C. Choudhary Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass Nat. Cell Biol. 14 2012 1089 1098
15. W. Kim, E.J. Bennett, E.L. Huttlin, A. Guo, J. Li, A. Possemato, M.E. Sowa, R. Rad, J. Rush, M.J. Comb, and et al. Systematic and quantitative assessment of the ubiquitin-modified proteome Mol. Cell 44 2011 325 340
16. S.A. Wagner, P. Beli, B.T. Weinert, M.L. Nielsen, J. Cox, M. Mann, and C. Choudhary A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles Mol. Cell. Proteomics 10 2011 013284
17. J.M. Danielsen, K.B. Sylvestersen, S. Bekker-Jensen, D. Szklarczyk, J.W. Poulsen, H. Horn, L.J. Jensen, N. Mailand, and M.L. Nielsen Mass spectrometric analysis of lysine ubiquitylation reveals promiscuity at site level Mol. Cell. Proteomics 10 2011 003590
18. K. Taniguchi, T. Ayada, K. Ichiyama, R. Kohno, Y. Yonemitsu, Y. Minami, A. Kikuchi, Y. Maehara, and A. Yoshimura Sprouty2 and Sprouty4 are essential for embryonic morphogenesis and regulation of FGF signaling Biochem. Biophys. Res. Commun. 352 2007 896 902
19. M.M. Gottlieb, D.J. Arenillas, S. Maithripala, Z.D. Maurer, M. Tarailo Graovac, L. Armstrong, M. Patel, C. van Karnebeek, and W.W. Wasserman GeneYenta: a phenotype-based rare disease case matching tool based on online dating algorithms for the acceleration of exome interpretation Hum. Mutat. 36 2015 432 438
20. N. Sobreira, F. Schiettecatte, C. Boehm, D. Valle, and A. Hamosh New tools for Mendelian disease gene identification: PhenoDB variant analysis module; and GeneMatcher, a web-based tool for linking investigators with an interest in the same gene Hum. Mutat. 36 2015 425 431