Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD)

European Journal of Medical Genetics

Volumn 53, Issue 4, 2010, Pages 204-207

  Barroso, Eva ^a,b   Benito Sanz, Sara ^a,b   Belinchón, Alberta ^a,b   Yuste Checa, Patricia ^a,b   Gracia, Ricardo ^c   Aragones, Ángel ^d   Campos Barros, Ángel ^a,b   Heath, Karen E ^a,b  

^a UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

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

^c HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^d HOSPITAL VIRGEN DE LA SALUD   (Spain)

Author keywords

L ri Weill dyschondrosteosis; LWD; PAR1; SHOX

Indexed keywords

ALLELE; ARTICLE; CASE REPORT; CHILD; DNA DETERMINATION; DYSCHONDROSTEOSIS; FEMALE; GENE; GENE DELETION; GENE MUTATION; HUMAN; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PROMOTER REGION; PSEUDOAUTOSOMAL REGION 1; SCHOOL CHILD; SHORT STATURE HOMEOBOX CONTAINING GENE; DWARFISM; GENETICS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SYNDROME;

CHILD; DWARFISM; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICROSATELLITE REPEATS; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; SEQUENCE DELETION; SYNDROME;

HOMEODOMAIN PROTEIN; MICROSATELLITE DNA; SHOX PROTEIN, HUMAN;

EID: 77954385032     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2010.04.003     Document Type: Article

References (21)

1. Belin V., Cusin V., Viot G., Girlich D., Toutain A., Moncla A., Vekmans M., Merrer M.L., Munnich A., Cormier-Daire V. SHOX mutations in dyschondrosteosis (Léri-Weill syndrome). Nat. Genet. 1998, 19:67-69.
2. Benito-Sanz S., Gorbenko Del Blanco D., Aza-Carmona M., Lapunzina P., Argente J., Campos-Barros A., Heath K.E. PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands. Hum. Mutat. 2006, 27:1062.
3. Benito-Sanz S., Gorbenko del Blanco D., Huber C., Thomas N.S., Aza-Carmona M., Bunyan D., Maloney V., Argente J., Cormier-Daire V., Campos-Barros A., Heath K.E. Characterization of SHOX deletions in Léri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots. Am. J. Hum. Genet. 2006, 79:409-414.
4. Benito-Sanz S., Thomas N.S., Huber C., Gorbenko del Blanco D., Aza-Carmona M., Crolla J.A., Maloney V., Argente J., Campos-Barros A., Cormier-Daire V., Heath K.E. A novel class of pseudoautosomal region 1 (PAR1) deletions downstream of SHOX is associated with Léri-Weill dyschondrosteosis (LWD). Am. J. Hum. Genet. 2005, 77:533-544.
5. Bertorelli R., Capone L., Ambrosetti F., Garavelli L., Varriale L., Mazza V., Stanhellini I., Percesepe A., Forabosco A. The homozygous deletion of the 3' enhancer of the SHOX gene causes Langer mesomelic dysplasia. Clin. Genet. 2007, 72:490-491.
6. Binder G., Renz A., Martinez A., Keselman A., Hesse V., Riedl S.W., Hausler G., Fricke-Otto S., Frisch H., Heinrich J.J., Ranke M.B. SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex and degree of wrist deformity. J. Clin. Endocrinol. Metab. 2004, 89:4403-4408.
7. Campos-Barros A., Benito-Sanz S., Ross J.L., Zinn A.R., Heath K.E. 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. Chen J., Wildhardt G., Zhong Z., Roeth R., Weiss B., Steinburger D., Decker J., Blum W.F., Rappold G.A. Enhancer mutations of the SHOX gene as a frequent downstream regulatory domain cause of short stature - the essential role of a 250 kb. J. Med. Genet. 2009, (epub ahead of print).
9. Falcinell C., Lughetti L., Percesepe A., Calabrese G., Chiarelli F., Cisternino M., De Sanctis L., Pucarelli I., Radetti G., Wasniewska M., Weber G., Stuppia L., Bernsconi S., Forabosco A. SHOX point mutations and deletions in Leri-Weill dyschondrosteosis. J. Med. Genet. 2002, 39:e33.
10. Fukami M., Kato F., Tajima T., Yokoya S., Ogata T. Transactivation function of an approximately 800-bp evolutionarily conserved sequence at the SHOX 3' region: implication for the downstream enhancer. Am. J. Hum. Genet. 2006, 78:167-170.
11. 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 Léri-Weill dyschondrosteosis in her 46, XX mother: implication for the SHOX enhancer. Am. J. Med. Genet. Part A 2005, 137:72-76.
12. Huber C., Rosilio M., Munnich A., Cormier-Daire V. French SHOX GeNeSIS module: high incidence of SHOX anomalies in individuals with short stature. J. Med. Genet. 2006, 43:735-739.
13. Lien S., Szyda J., Schechinger B., Rappold G., Arnheim N. Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping. Am. J. Hum. Genet. 2000, 66:557-566.
14. May C.A., Shone A.C., Kalydjieva L., Sajantila A., Jeffreys A.J. Crossover clustering and rapid decay of linkage disequilibrium in the Xp/Yp pseudoautosomal gene SHOX. Nat. Genet. 2002, 31:272-275.
15. Morizio E., Stuppia L., Gatta V., Fantasia D., Guanciali-Franchi P., Rinaldi M.M., Scarano G., Conocolino D., Giannotti A., Verrotti A., Chiarelli F., Calabrese G., Palka G. Deletion of the SHOX gene in patients with short stature of unknown cause. Am. J. Med. Genet. Part A 2003, 119:293-296.
16. Sabherwal N., Bangs F., Roth R., Weiss B., Jantz K., Tiecke E., Hinkel G.K., Spaich C., Hauffa B.P., van der Kamp H., Kapeller J., Tickle C., Rappold G. 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.
17. Shears D.J., Guillen-Navarro E., Sempere-Miralles M., Domingo-Jimenez R., Scambler P.J., Winter R.M. Pseudodominant inheritance of Langer mesomelic dysplasia caused by a SHOX homeobox missense mutation. Am. J. Med. Genet. 2002, 110:153-157.
18. Shears D.J., Vassal H.J., Goodman F.R., Palmer R.W., Reardon W., Superti-Furga A., Scambler P.J., Winter R.M. Mutation and deletion of the pseudoautosomal gene SHOX cause Léri-Weill dyschondrosteosis. Nat. Genet. 1998, 19:70-73.
19. Sobradillo B., Aguirre A., Aresti U., Bilbao A., Fernández-Ramos C., Lizárraga A., Lorenzo H., Madariaga L., Rica I., Ruiz I., Sánchez E., Santamaría C., Serrano J.M., Zabala A., Zurimendi B., Hernández M. Curvas y Tablas de crecimiento (Estudios Longitudinal y Transversal) 2002, Fundación Faustino Orbegozo Eizaguirre Bilbao, pp. 1-36.
20. Uematsu A., Yorifuji T., Muroi J., Kawai M., Mamada M., Kaji M., Yamanaka C., Momoi T., Nakahata T. Parental origin of normal X chromosomes in Turner syndrome patients with various karyotypes: implications of the mechanism leading to generation of a 45, X karyotype. Am. J. Med. Genet. 2002, 111:134-139.
21. Zinn A.R., Wei F., Zhang L., Elder F.F., Scott C.L., Marttila P., Ross J.R. Complete SHOX deficiency causes Langer mesomelic deficiency. Am. J. Med. Genet. 2002, 110:158-163.