Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia

European Journal of Human Genetics

Volumn 19, Issue 12, 2011, Pages 1218-1225

  Barca Tierno, Verónica ^a,b   Aza Carmona, Miriam ^a,b   Barroso, Eva ^a,b   Heine Suner, Damia ^c   Azmanov, Dimitar ^d   Rosell, Jordi ^c   Ezquieta, Begõa ^b,e   Montané, Lucia Sentchordi ^f   Vendrell, Teresa ^g   Cruz, Jaime ^h   Santos, Fernando ^a,b   Rodríguez, José Ignacio ⁱ   Pozo, Jess ^j,k,l   Argente, Jess ^j,k,l   Kalaydjieva, Luba ^d   Gracía, Ricardo ⁱ   Campos Barros, Ngel ^a,b   Benito Sanz, Sara ^a,b   Heath, Karen E ^a,b  

^a HOSPITAL UNIVERSITARIO LA PAZ IDIPAZ   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^e HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^f HOSPITAL UNIVERSITARIO INFANTA LEONOR   (Spain)

^g HOSPITAL UNIVERSITARI VALL D HEBRON   (Spain)

^h HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

ⁱ HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^j HOSPITAL UNIVERSITARIO DE LA PRINCESA   (Spain)

^k UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^l Instituto de Salud Carlos III   (Spain)

more..

Author keywords

!SHOX; A170P; A170D; L ri Weill dyschondrosteosis; Langer mesomelic dysplasia; founder

Indexed keywords

ARTICLE; CARTILAGE CELL; CELL PROLIFERATION; CONTROLLED STUDY; DYSCHONDROSTEOSIS; DYSPLASIA; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; GIPSY; GROWTH PLATE; HAPLOTYPE; HETEROZYGOSITY; HOMEOBOX; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SHORT STATURE HOMEOBOX GENE;

CONSANGUINITY; FEMALE; FETUS; FOUNDER EFFECT; GROWTH DISORDERS; GROWTH PLATE; GYPSIES; HAPLOTYPES; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PROTEIN TRANSPORT;

EID: 81455141487     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.128     Document Type: Article

References (24)

1. Leri A, Weill J: Une affection congenitale et symetrique du developpement osseux: la dyschondrosteose. Bull Mem Soc Med Hosp 1929; 35: 1491-1494.
2. Langer Jr LO: Mesomelic dwarfism of the hypoplastic ulna, fibula, mandible type. Radiology 1967; 89: 654-660.
3. Rao E, Weiss B, Fukami M et al: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63.
4. Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W: PHOG, a candidate gene for involvement in the short stature of Turner syndrome. Hum Mol Genet 1997; 6: 1341-1347.
5. Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA: The Lé ri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet 2001; 10: 3083-3091.
6. Shears DJ, Guillen-Navarro E, Sempere-Miralles M et al: Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Am J Med Genet 2002; 110: 153-157.
7. Campos-Barros A, Benito-Sanz S, Ross JL, Zinn AR, Heath KE: Compound heterozygosity of SHOX-encompassing and downstream PAR1 deletions results in Langer mesomelic dysplasia (LMD). Am J Med Genet Part A 2007; 143: 933-938.
8. Bertorelli R, Capone L, Ambrosetti F et al: The homozygous deletion of the 3¢ enhancer of the SHOX gene causes Langer mesomelic dysplasia. Clin Genet 2007; 72: 490-491.
9. Belin V, Cusin V, Viot G et al: SHOX mutations in dyschondrosteosis (Lé ri-Weill syndrome). Nat Genet 1998; 19: 67-69.
10. Shears DJ, Vassal HJ, Goodman FR et al: Mutation and deletion of the pseudoautosomal gene SHOX cause Lé ri-Weill dyschondrosteosis. Nat Genet 1998; 19: 70-73.
11. Benito-Sanz S, Thomas NS, Huber C et al: A novel class of pseudoautosomal region 1 (PAR1) deletions downstream of SHOX is associated with Lé ri-Weill dyschondrosteosis (LWD). Am J Hum Genet 2005; 77: 533-544.
12. Fukami M, Okuyama T, Yamamori S, Nishimura G, Ogata T: Microdeletion in the SHOX 3¢ region associated with skeletal phenotypes of Langer mesomelic dysplasia in a 45,X/ 46,X,r(X) infant and Lé ri-Weill dyschondrosteosis in her 46,XX mother: implication for the SHOX enhancer. Am J Med Genet Part A 2005; 137: 72-76.
13. Sabherwal N, Bangs F, Roth R et al: Long-range conserved non-coding SHOX sequences regulated expression in developing chicken limb and are associated with short stature phenotypes in human patients. Hum Mol Genet 2007; 16: 210-222.
14. Chen J, Wildhardt G, Zhong Z et al: Enhancer deletions of the SHOX gene as a frequent cause of short stature: The essential role of a 250 kb downstream regulatory domain. J Med Genet 2009; 46: 834-839.
15. Benito-Sanz S, Barroso E, Heine-Sunñ er D et al: Clinical and molecular evaluation of SHOX/PAR1 duplications in Lé ri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS). J Clin Endocrinol Metab 2011; 96: E404-E412.
16. Sabherwal N, Blaschke RJ, Marchini A et al: A novel point mutation A170P in the SHOX gene defines impaired nuclear translcocation as a molecular cause for Lé ri-Weill dyschondrosteosis and Langer dysplasia. J Med Genet 2004; 41: e83.
17. Sabherwal N, Schneider KU, Blaschke RJ et al: Impairment of SHOX nuclear localization as a case for Lé ri-Weill syndrome. J Cell Science 2004; 117: 3041-3048.
18. Benito-Sanz S, Gorbenko Del Blanco D, Aza-Carmona M et al: PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Lé ri-Weill dyschondrosteosis (LWD) probands. Hum Mutat 2006a; 27: 1062.
19. Benito-Sanz S, Gorbenko del Blanco D, Huber C et al: Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am J Hum Genet 2006; 79: 409-414.
20. Aza-Carmona M, Shears DJ, Yuste-Checa P et al: SHOX interacts with the chondrogenic transcription factors SOX5 and SOX6 to activate the aggrecan enhancer. Hum Mol Genet 2011; 20: 1547-1559.
21. May CA, Shone AC, Kalydjieva L, Sajantila A, Jeffreys AJ: Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat Genet 2002; 31: 272-275.
22. Schneider KJ, Marchini A, Sabherwal N et al: Alteration of DNA binding, dimerization, and nuclear translocation of SHOX homeodomain mutations identified in idiopathic short stature and Leri-Weill dyschondrosteosis. Hum Mutat 2005; 26: 1-9.
23. Evans MI, Zador IE, Quereshi F, Budev H, Quigg MH, Nadler HL: Ultrasonographic prenatal diagnosis and fetal pathology of Langer mesomelic dwarfism. Am J Med Genet 1998; 31: 915-920.
24. Munns CF, Glass IA, LaBrom R et al: Histopathological analysis of Leri-Weill dyschondrosteosis: disordered growth plate. Hand Surg 2001; 6: 13-23.