Copy number variants in patients with short stature

European Journal of Human Genetics

Volumn 22, Issue 5, 2014, Pages 602-609

  Van Duyvenvoorde, Hermine A ^a   Lui, Julian C ^b   Kant, Sarina G ^a   Oostdijk, Wilma ^a   Gijsbers, Antoinet C J ^a   Hoffer, Mariëtte J V ^a   Karperien, Marcel ^c   Walenkamp, Marie J E ^d   Noordam, Cees ^e   Voorhoeve, Paul G ^f   Mericq, Verónica ^g   Pereira, Alberto M ^a   Claahsen Van De Grinten, Hedi L ^e   Van Gool, Sandy A ^a   Breuning, Martijn H ^a   Losekoot, Monique ^a   Baron, Jeffrey ^b   Ruivenkamp, Claudia A L ^a   Wit, Jan M ^a  

^a LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^b EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

^c UNIVERSITY OF TWENTE   (Netherlands)

^d VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f CANISIUS WILHELMINA HOSPITAL   (Netherlands)

^g UNIVERSITY OF CHILE   (Chile)

Author keywords

copy number variations (CNV); growth; idiopathic short stature; short stature; single nucleotide polymorphism (SNP) array; small for gestational age

Indexed keywords

ADAMTS 10 GENE; ARTICLE; BMP3 GENE; BODY HEIGHT; CHROMOSOME 15Q; COPY NUMBER VARIATION; FEMALE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENE IDENTIFICATION; GENETIC ASSOCIATION; GROWTH PLATE; HUMAN; MAJOR CLINICAL STUDY; MALE; PAPPA GENE; PRIORITY JOURNAL; PRKG 2 GENE; SEGREGATION ANALYSIS; SHORT STATURE; SHOX GENE; SINGLE NUCLEOTIDE POLYMORPHISM; TULP 4 GENE; ANIMAL; BIOLOGY; DWARFISM; GENETICS; GENOMICS; MOUSE; RAT;

RODENTIA;

ANIMALS; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; DWARFISM; GENETIC ASSOCIATION STUDIES; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; HUMANS; MICE; POLYMORPHISM, SINGLE NUCLEOTIDE; RATS;

EID: 84898819456     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2013.203     Document Type: Article

References (44)

1. Lango Allen H, Estrada K, Lettre G et al: Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467: 832-838.
2. Yang J, Benyamin B, McEvoy BP et al: Common SNPs explain a large proportion of the heritability for human height. Nat Genet 2010; 42: 565-569.
3. Cirulli ET, Goldstein DB: Uncovering the roles of rare variants in common disease through whole-genome sequencing. Nat Rev Genet 2010; 11: 415-425.
4. Kant SG, Kriek M, Walenkamp MJ et al: Tall stature and duplication of the insulin-like growth factor I receptor gene. Eur J Med Genet 2007; 50: 1-10.
5. van Duyvenvoorde HA, Kempers MJ, Twickler TB et al: Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit. Eur J Endocrinol 2008; 159: 113-120.
6. van Duyvenvoorde HA, van Setten PA, Walenkamp MJ et al: Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene. J Clin Endocrinol Metab 2010; 95: E363-E367.
7. Vidarsdottir S, Walenkamp MJ, Pereira AM et al: Clinical and biochemical characteristics of a male patient with a novel homozygous STAT5b mutation. J Clin Endocrinol Metab 2006; 91: 3482-3485.
8. Walenkamp MJ, Karperien M, Pereira AM et al: Homozygous and heterozygous expression of a novel insulin-like growth factor-I mutation. J Clin Endocrinol Metab 2005; 90: 2855-2864.
9. Walenkamp MJ, van der Kamp HJ, Pereira AM et al: A variable degree of intrauterine and postnatal growth retardation in a family with a missense mutation in the insulinlike growth factor I receptor. J Clin Endocrinol Metab 2006; 91: 3062-3070.
10. Woods KA, Camacho-Hubner C, Savage MO, Clark AJ: Intrauterine growth retardation and postnatal growth failure associated with deletion of the insulin-like growth factor I gene. N Engl J Med 1996; 335: 1363-1367.
11. Caliebe J, Broekman S, Boogaard M et al: IGF1, IGF1R and SHOX mutation analysis in short children born small for gestational age and short children with normal birth size (idiopathic short stature). Horm Res Paediatr 2012; 77: 250-260.
12. Wit JM, van Duyvenvoorde HA, Scheltinga SA et al: Genetic analysis of short children with apparent growth hormone insensitivity. Horm Res Paediatr 2012; 77: 320-333.
13. Clayton PE, Cianfarani S, Czernichow P, Johannsson G, Rapaport R, Rogol A: Management of the child born small for gestational age through to adulthood: a consensus statement of the International Societies of Pediatric Endocrinology and the Growth Hormone Research Society. J Clin Endocrinol Metab 2007; 92: 804-810.
14. Wit JM, Clayton PE, Rogol AD, Savage MO, Saenger PH, Cohen P: Idiopathic short stature: definition, epidemiology, and diagnostic evaluation. Growth Horm IGF Res 2008; 18: 89-110.
15. Fredriks AM, van Buuren S, Burgmeijer RJ et al: Continuing positive secular growth change in The Netherlands 1955-1997. Pediatr Res 2000; 47: 316-323.
16. Fredriks AM, van Buuren S, Jeurissen SE, Dekker FW, Verloove-Vanhorick SP, Wit JM: Height, weight, body mass index and pubertal development reference values for children of Turkish origin in The Netherlands. Eur J Pediatr 2003; 162: 788-793.
17. Nannya Y, Sanada M, Nakazaki K et al: A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res 2005; 65: 6071-6079.
18. Hehir-Kwa JY, Egmont-Petersen M, Janssen IM, Smeets D, van Kessel AG, Veltman JA: Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis. DNA Res 2007; 14: 1-11.
19. Lalic T, Vossen RH, Coffa J et al: Deletion and duplication screening in the DMD gene using MLPA. Eur J Hum Genet 2005; 13: 1231-1234.
20. Lui JC, Andrade AC, Forcinito P et al: Spatial and temporal regulation of gene expression in the mammalian growth plate. Bone 2010; 46: 1380-1390.
21. Lui JC, Nilsson O, Chan Y et al: Synthesizing genome-wide association studies and expression microarray reveals novel genes that act in the human growth plate to modulate height. Hum Mol Genet 2012; 21: 5193-5201.
22. Dauber A, Yu Y, Turchin MC et al: Genome-wide association of copy-number variation reveals an association between short stature and the presence of low-frequency genomic deletions. Am J Hum Genet 2011; 89: 751-759.
23. Benito-Sanz S, Barroso E, Heine-Suner D et al: Clinical and molecular evaluation of SHOX/PAR1 duplications in Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab 2011; 96: E404-E412.
24. Iughetti L, Capone L, Elsedfy H et al: Unexpected phenotype in a boy with trisomy of the SHOX gene. J Pediatr Endocrinol Metab 2010; 23: 159-169.
25. Ester WA, van Duyvenvoorde HA, de Wit CC et al: Two short children born small for gestational age with insulin-like growth factor 1 receptor haploinsufficiency illustrate the heterogeneity of its phenotype. J Clin Endocrinol Metab 2009; 94: 4717-4727.
26. Klammt J, Kiess W, Pfaffle R: IGF1R mutations as cause of SGA. Best Pract Res Clin Endocrinol Metab 2011; 25: 191-206.
27. Zhao X, Onteru SK, Piripi S et al: In a shake of a lamb's tail: using genomics to unravel a cause of chondrodysplasia in Texel sheep. Anim Genet 2012; 43(Suppl 1): 9-18.
28. Markovich D: Slc13a1 and Slc26a1 KO models reveal physiological roles of anion transporters. Physiology (Bethesda) 2012; 27: 7-14.
29. Hoopes BC, Rimbault M, Liebers D, Ostrander EA, Sutter NB: The insulin-like growth factor 1 receptor (IGF1R) contributes to reduced size in dogs. Mamm Genome 2012; 23: 780-790.
30. Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, Alkuraya FS: Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genet 2012; 33: 235-239.
31. Le Goff C, Cormier-Daire V: The ADAMTS(L) family and human genetic disorders. Hum Mol Genet 2011; 20: R163-R167.
32. Morales J, Al-Sharif L, Khalil DS et al: Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet 2009; 85: 558-568.
33. Sengle G, Tsutsui K, Keene DR et al: Microenvironmental regulation by fibrillin-1. PLoS Genet 2012; 8: e1002425.
34. Weiske J, Albring KF, Huber O: The tumor suppressor Fhit acts as a repressor of beta-catenin transcriptional activity. Proc Natl Acad Sci USA 2007; 104: 20344-20349.
35. Wang Z, Shen D, Parsons DW et al: Mutational analysis of the tyrosine phosphatome in colorectal cancers. Science 2004; 304: 1164-1166.
36. van Meeteren LA, Moolenaar WH: Regulation and biological activities of the autotaxin-LPA axis. Prog Lipid Res 2007; 46: 145-160.
37. Trimbuch T, Beed P, Vogt J et al: Synaptic PRG-1 modulates excitatory transmission via lipid phosphate-mediated signaling. Cell 2009; 138: 1222-1235.
38. Shin JN, Kim I, Lee JS, Koh GY, Lee ZH, Kim HH: A novel zinc finger protein that inhibits osteoclastogenesis and the function of tumor necrosis factor receptor-associated factor 6. J Biol Chem 2002; 277: 8346-8353.
39. Li J, Wang CY: TBL1-TBLR1 and beta-catenin recruit each other to Wnt target-gene promoter for transcription activation and oncogenesis. Nat Cell Biol 2008; 10: 160-169.
40. Yue Y, Grossmann B, Galetzka D, Zechner U, Haaf T: Isolation and differential expression of two isoforms of the ROBO2/Robo2 axon guidance receptor gene in humans and mice. Genomics 2006; 88: 772-778.
41. Thompson BA, Tremblay V, Lin G, Bochar DA: CHD8 is an ATP-dependent chromatin remodeling factor that regulates beta-catenin target genes. Mol Cell Biol 2008; 28: 3894-3904.
42. Lee JH, You J, Dobrota E, Skalnik DG: Identification and characterization of a novel human PP1 phosphatase complex. J Biol Chem 2010; 285: 24466-24476.
43. Durand C, Roeth R, Dweep H et al: Alternative splicing and nonsense-mediated RNA decay contribute to the regulation of SHOX expression. PLoS One 2011; 6: e18115.
44. Bonar SL, Brydges SD, Mueller JL et al: Constitutively activated NLRP3 inflammasome causes inflammation and abnormal skeletal development in mice. PLoS One 2012; 7: e35979.