3M syndrome: An easily recognizable yet underdiagnosed cause of proportionate short stature

Journal of Pediatrics

Volumn 161, Issue 1, 2012, Pages

  Al Dosari, Mohammed S ^a,b   Al Shammari, Muneera ^a,c   Shaheen, Ranad ^a   Faqeih, Eissa ^d   Alghofely, Mohammed A ^d   Boukai, Ahmad ^c   Alkuraya, Fowzan S ^a,c,e  

^a KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD UNIVERSITY   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d KING FAHAD MEDICAL CITY   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

CCDC8 PROTEIN; CUL7 PROTEIN; OBSL1 PROTEIN; PEPTIDES AND PROTEINS; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BODY WEIGHT; CHILD; CLINICAL ARTICLE; DIAGNOSTIC ERROR; FACE DYSMORPHIA; FAMILY; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH RETARDATION; HUMAN; JOINT HYPERMOBILITY; MALE; NONSENSE MUTATION; PHENOTYPE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SHORT STATURE; SIBLING; SYNDROME 3 M;

EID: 84862760282     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2011.12.051     Document Type: Article

References (28)

1. J.D. Miller, V.A. McKusick, P. Malvaux, S. Temtamy, and C. Salinas The 3-M syndrome: a heritable low birthweight dwarfism Birth Defects Orig Artic Ser 11 1975 39 47
2. M. Holder-Espinasse, M. Irving, and V. Cormier-Daire Clinical utility gene card for: 3M syndrome Eur J Hum Genet 19 2011 9
3. C. Huber, D. Dias-Santagata, A. Glaser, J. O'Sullivan, R. Brauner, and K. Wu Identification of mutations in CUL7 in 3-M syndrome Nat Genet 37 2005 1119 1124
4. C. Huber, A.L. Delezoide, F. Guimiot, C. Baumann, V. Malan, and M. Le Merrer A large-scale mutation search reveals genetic heterogeneity in 3M syndrome Eur J Hum Genet 17 2009 395 400
5. N. Maksimova, K. Hara, A. Miyashia, I. Nikolaeva, A. Shiga, and A. Nogovicina Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia J Med Genet 44 2007 772 778
6. K. Sasaki, N. Okamoto, K. Kosaki, T. Yorifuji, O. Shimokawa, and H. Mishima Maternal uniparental isodisomy and heterodisomy on chromosome 6 encompassing a CUL7 gene mutation causing 3M syndrome Clini Genet 2010
7. D. Hanson, P.G. Murray, A. Sud, S.A. Temtamy, M. Aglan, and A. Superti-Furga The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1 Am J Hum Genet 84 2009 801 806
8. C. Huber, M. Fradin, T. Edouard, M. Le Merrer, Y. Alanay, and D.B. Da Silva OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels Hum Mutat 31 2010 20 26
9. D. Hanson, P.G. Murray, J. O'Sullivan, J. Urquhart, S. Daly, and S.S. Bhaskar Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth Am J Hum Genet 89 2011 148 153
10. C. Huber, A. Munnich, and V. Cormier-Daire The 3M syndrome Best Pract Res Clin Endocrinol Metab 25 2011 143 151
11. M.A. Aldahmesh, L. Abu-Safieh, A.O. Khan, Z.N. Al-Hassnan, R. Shaheen, and M. Rajab Allelic heterogeneity in inbred populations: the Saudi experience with Alstrom syndrome as an illustrative example Am J Med Genet Part A 149A 2009 662 665
12. D.C. Dias, G. Dolios, R. Wang, and Z.Q. Pan CUL7: a DOC domain-containing cullin selectively binds Skp1.Fbx29 to form an SCF-like complex Proc Natl Acad Sci U S A 99 2002 16601 16606
13. P. Andrews, Y.J. He, and Y. Xiong Cytoplasmic localized ubiquitin ligase cullin 7 binds to p53 and promotes cell growth by antagonizing p53 function Oncogene 25 2006 4534 4548
14. A. Sarikas, X. Xu, L.J. Field, and Z.Q. Pan The cullin7 E3 ubiquitin ligase: a novel player in growth control Cell Cycle 7 2008 3154 3161
15. T. Arai, J.S. Kasper, J.R. Skaar, S.H. Ali, C. Takahashi, and J.A. DeCaprio Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis Proc Natl Acad Sci U S A 100 2003 9855 9860
16. Holder-Espinasse M, Irving M, Cormier-Daire V. Clinical utility gene card for: 3M syndrome. Eur J Hum Genet. In press 2011.
17. S.B. Geisler, D. Robinson, M. Hauringa, M.O. Raeker, A.B. Borisov, and M.V. Westfall Obscurin-like 1, OBSL1, is a novel cytoskeletal protein related to obscurin Genomics 89 2007 521 531
18. A. Fukuzawa, S. Lange, M. Holt, A. Vihola, V. Carmignac, and A. Ferreiro Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathies J Cell Sci 121 2008 1841 1851
19. Litterman N, Ikeuchi Y, Gallardo G, O'Connell BC, Sowa ME, Gygi SP, et al. An OBSL1-Cul7Fbxw8 ubiquitin ligase signaling mechanism regulates Golgi morphology and dendrite patterning. PLoS biology 9:e1001060.
20. L.S. Bicknell, E.M. Bongers, A. Leitch, S. Brown, J. Schoots, and M.E. Harley Mutations in the pre-replication complex cause Meier-Gorlin syndrome Nat Genet 43 2011 356 359
21. D.L. Guernsey, M. Matsuoka, H. Jiang, S. Evans, C. Macgillivray, and M. Nightingale Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome Nat Genet 43 2011 360 364
22. M.S. Al-Dosari, R. Shaheen, D. Colak, and F.S. Alkuraya Novel CENPJ mutation causes Seckel syndrome J Med Genet 47 2010 411 414
23. A. Rauch, C.T. Thiel, D. Schindler, U. Wick, Y.J. Crow, and A.B. Ekici Mutations in the pericentrin (PCNT) gene cause primordial dwarfism Science 319 2008 816 819
24. P. Edery, C. Marcaillou, M. Sahbatou, A. Labalme, J. Chastang, and R. Touraine Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA Science 332 2011 240 243
25. H. He, S. Liyanarachchi, K. Akagi, R. Nagy, J. Li, and R.C. Dietrich Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I Science 332 2011 238 240
26. N. Karlberg, H. Jalanko, J. Perheentupa, and M. Lipsanen-Nyman Mulibrey nanism: clinical features and diagnostic criteria J Med Genet 41 2004 92 98
27. E.L. Wakeling, S.A. Amero, M. Alders, J. Bliek, E. Forsythe, and S. Kumar Epigenotype-phenotype correlations in Silver-Russell syndrome J Med Genet 47 2010 760 768
28. F.S. Alkuraya Homozygosity mapping: one more tool in the clinical geneticist's toolbox Genet Med 12 2010 236 239