SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: Prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity

Journal of Clinical Endocrinology and Metabolism

Volumn 89, Issue 9, 2004, Pages 4403-4408

  Binder, Gerhard ^a   Renz, Alexandra ^a   Martinez, Alicia ^b   Keselman, Ana ^b   Hesse, Volker ^c   Riedl, Stefan W ^d   Häusler, Gabriele ^d   Fricke Otto, Susanne ^e   Frisch, Herwig ^d   Heinrich, Juan Jorge ^b   Ranke, Michael B ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^b HOSPITAL DE NIÑOS RICARDO GUTIÉRREZ   (Argentina)

^c Lichtenberg Hospital   (Germany)

^d UNIVERSITY OF VIENNA   (Austria)

^e Children's Hospital Krefeld   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; MICROSATELLITE DNA;

ADOLESCENT; ADULT; ARTICLE; BODY HEIGHT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DNA FINGERPRINTING; DYSCHONDROSTEOSIS; FAMILY STUDY; FEMALE; FOLLOW UP; GENE; GENE DELETION; GENE LOCUS; GROWTH DISORDER; HAND RADIOGRAPHY; HAPLOIDY; HUMAN; LIMB DEFORMITY; MALE; MENARCHE; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; POLYMERASE CHAIN REACTION; PREVALENCE; PRIORITY JOURNAL; SCORING SYSTEM; SEX DIFFERENCE; SHORT STATURE HOMEOBOX CONTAINING GENE; WRIST;

ADOLESCENT; BODY HEIGHT; CHILD; FEMALE; GROWTH DISORDERS; GROWTH HORMONE; HOMEODOMAIN PROTEINS; HUMANS; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; PREVALENCE; RETROSPECTIVE STUDIES; SEX FACTORS; TRANSCRIPTION FACTORS; WRIST;

EID: 4544383265     PISSN: 0021972X     EISSN: None     Source Type: Journal    
DOI: 10.1210/jc.2004-0591     Document Type: Article

References (29)

1. Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA 1997 Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 16:54-63
2. Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V 1998 SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 19:67-69
3. Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM 1999 Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 19:70-73
4. Schiller S, Spranger S, Schechinger B, Fukami M, Merker S, Drop SLS, Tröger J, Knoblauch H, Kunze J, Seidel J, Rappold GA 2000 Phenotypic variation and genetic heterogeneity in Leri-Weill syndrome. Eur J Hum Genet 8:54-62
5. Cormier-Daire V, Huber C, Munnich A 2001 Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome). Am J Med Genet 106: 272-274
6. Leri A, Weill J 1929 Une affection congénitale et symétrique du développement osseux: la dyschondrostéose. Bull Mém Soc Med Hosp 35:1491-1494
7. Binder G, Ranke MB, Martin DD 2003 Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. J Clin Endocrinol Metab 88:4891-4896
8. Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T 2002 Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 87:1402-1406
9. Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachati T, Lindsay S, Rappold GA 2000 The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 9:695-702
10. Rao E, Blaschke RJ, Marchini A, Niesler B, Burnett M, Rappold GA 2001 The Leri-Weill and Turner syndrome homeobox gene SHOX encodes a cell-type specific transcriptional activator. Hum Mol Genet 15:3083-3091
11. Rosenfeld RG 2001 A SHOX to the system. J Clin Endocrinol Metab 86:5672-5673 (Editorial)
12. Ross JL, Scott Jr C, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR 2001 Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 86:5674-5680
13. Grigelioniene G, Schoumans J, Neumeyer L, Ivarsson A, Eklof O, Enkvist O, Tordai P, Fosdal I, Myhre AG, Westphal O, Nilsson NO, Elfving M, Ellis I, Anderlid BM, Fransson I, Tapia-Paez I, Nordenskjold M, Hagenas L, Dumanski JP 2001 Analysis of short stature homeobox-containing gene (SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity. Hum Genet 109:551-558
14. Flanagan SF, Munns CF, Hayes M, Williams B, Berry M, Vickers D, Rao E, Rappold GA, Batch JA, Hyland VJ, Glass IA 2002 Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of childhood. J Med Genet 39:758-763
15. Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T 1999 Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 84:4613-4621
16. Prader A, Largo HR, Molinari L, Issler C 1989 Physical growth of Swiss children from birth to 20 yrs of age. Helv Paediatr Acta Suppl 52:3-31
17. Gerver WJ, De Bruin R 1995 Relationship between height, sitting height and subischial leg length in Dutch children: presentation of normal values. Acta Paediatr 84:532-535
18. Niklasson A, Ericson A, Fryer JG, Karlberg J, Lawrence C, Karlberg P 1991 An update of the Swedish reference standards for weight, length and head circumference at birth for given gestational age (1977-1981). Acta Paediatr Scand 80:756-762
19. Binder G, Fritsch H, Schweizer R, Ranke MB 2001 Radiological signs of Leri-Weill dyschondrosteosis in Turner syndrome. Horm Res 55:71-76
20. Binder G, Schwarze CP, Ranke MB 2000 Identification of short stature caused by SHOX defects and therapeutic effect of recombinant human growth hormone. J Clin Endocrinol Metab 85:245-249
21. Lien S, Szyda J, Schechinger B, Rappold G, Arnheim N 2000 Evidence for heterogeneity in recombination in the human pseudoautosomal region: high resolution analysis by sperm typing and radiation-hybrid mapping. Am J Hum Genet 66:557-566
22. Grigelioniene G, Eklof O, Ivarsson SA, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenas L 2000 Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia. Hum Genet 107:145-149
23. Niesler B, Fischer C, Rappold GA 2002 The human SHOX mutation database. Hum Mutat 20:338-341
24. Ranke MB, Pfluger H, Rosendahl W, Stubbe P, Enders H, Bierich JR, Majewski F 1983 Turner syndrome: spontaneous growth in 150 cases and review of the literature. Eur J Pediatr 141:81-88
25. Zinn AR, Tonk VS, Chen Z, Flejter WL, Gardner HA, Guerra R, Kushner H, Schwartz S, Sybert VP, Van Dyke DL, Ross JL 1998 Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet 63:1757-1766
26. Ramaswami U, Hindmarsh PC, Brook CG 1999 Growth hormone therapy in hypochondroplasia. Acta Paediatr Suppl 88:116-117
27. Schweizer R, Ranke MB, Binder G, Herdach F, Zapadlo M, Grauer ML, Schwarze CP, Wollmann HA 2000 Experience with growth hormone therapy in Turner syndrome in a single centre: low total height gain, no further gains after puberty onset and unchanged body proportions. Horm Res 53:228-238
28. Massa G, Heinrichs C, Verlinde S, Thomas M, Bourguignon JP, Craen M, Francois I, Du Caju M, Maes M, De Schepper J; Belgian Study Group for Pediatric Endocrinology 2003 Late or delayed induced or spontaneous puberty in girls with Turner syndrome treated with growth hormone does not affect final height. J Clin Endocrinol Metab 88:4168-4174
29. Shanske A, Ellison J, Vuguin P, Dowling P, Wasserman E, Heinrich J, Saenger P 1999 Deletion of the pseudoautosomal region in a male with a unique Y;13 translocation and short stature. Am J Med Genet 82:34-39