Shox_Gene_Analysis_L5157-0410-2[1]

Clinical Application

?The short stature homeobox-containing (SHOX) gene is located in the pseudoautosomal 1 (PAR 1) region of the X and Y chromosomes.1,2

? Haploinsufficiency due to deficiency of 1 copy of the

SHOX gene can result in a range of phenotypes from

short stature to Leri-Weill dychondrosteosis (LWD).3-10? Haploinsufficiency of the SHOX gene is indicated as

the cause of short stature in Turner syndrome.1,2,11,12

? Deficiency of both copies of the SHOX gene results

in the severe growth retardation condition Langer

mesomelic dysplasia (LMD).3,4,13,14

?Studies indicate that 2% to 15% of children with

idiopathic short stature have mutations in the SHOX

gene.7-10 Those children who have SHOX gene mutations are responsive to growth hormone therapy.15,16

? Identification of a SHOX gene mutation in a patient may be useful for:

? Establishing a genetic basis for idiopathic

Scientific Expertise

? Industry leading endocrine sciences laboratory with a history exceeding 30 years

? Extensive pituitary and androgen disorder test menu and expertise

? Assay method developed, validated, and maintained on site by PhD-level scientists

? Complete normative data for children and adults ? PhD and MD consultation available

Superior Service

? Comprehensive services for the endocrinology specialist ?Broad network of managed care health plans

? Flexible connectivity options for test ordering and

result reporting

?Patient service centers available nationwide

? Courier and logistics services

?Local sales representation

SHOX Gene Analysis

A Diagnostic Tool for Children With Short Stature

Please contact your local account representative for more information.

?2010 Laboratory Corporation of America? Holdings All rights reserved. L5157-0410-2

Esoterix is a wholly owned subsidiary of Laboratory Corporation of America? Holdings. Its Endocrine Sciences laboratory operates as a LabCorp Center of Excellence for specialized endocrinology. Endocrine Sciences’ testing can be accessed directly from Esoterix or through LabCorp and any of its regional facilities.

References

1. Ellison JW, Wardak Z, Young MF, Robey PG, Laig-Webster M, Chiong W. PHOG, a candidate gene for involvement in the short stature of Turner

syndrome. Hum Molec Genet. 1997;6:1341-1347.

2. 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. Nature Genet. 1997;16:54-63.

3. Belin V, Cusin V, Viot G, et al. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nature Genet. 1998;19:67-69.

4. Shears DJ, Vassal HJ, Goodman FR, et al. Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nature Genet.

1998;19:70-73.

5. Grigelioniene G, Ekl?f O, Ivarsson SA, et al. Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in

hypochondroplasia. Hum Genet. 2000;107:145-149.

6. Ross J L, Scott C Jr, Marttila P, et al. Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab. 2001;86:5674-5680.

7. Flanagan SF, Munns CFJ, Hayes M, et al. Prevalence of mutations in the short stature homeobox containing gene (SHOX) in Madelung deformity of

childhood. J Med Genet. 2002;39:758-763.

8. Binder G, Ranke MB, Martin DD. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with

unexplained short stature. J Clin Endocrinol Metab. 2003;88:4891-4896.

9. Huber C, Rosilio M, Munnich A, Cormier-Daire V. High incidence of SHOX anomalies in individuals with short stature. J Med Genet. 2006;43:735-739.

10. Rappold G, Blum WF, Shavrikova EP, et al. Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J

Med Genet. 2007;44:306-313.

11. Kosho T, Muroya K, Nagai T, et al. Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the

development of Turner syndrome. J Clin Endocrinol Metab. 1999;84:4613-4621.

12. Clement-Jones M, Schiller S, Rao E, et al. The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol

Genet. 2000;9:695-702.

13. Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T. SHOX nullizygosity and haploinsufficiency in a Japanese family: Implication for the

development of Turner skeletal features. J Clin Endocrinol Metab. 2002;87:1390-1394.

14. Zinn AR, Wei F, Zhang L, et al. Complete SHOX deficiency causes Langer mesomelic dysplasia. Am J Med Genet. 2002;110:158-163.

15. Binder G, Schwarze CP, Ranke MB. Identification of short stature caused by SHOX defects and therapeutic effects of recombinant human growth

hormone. J Clin Endocrinol Metab. 2000;85:245-249.

16. Blum WF, Crowe BJ, Quigley CA, et al, for the SHOX Study Group. Growth hormone is effective in treatment of short stature associated with short

stature homeobox-containing gene deficiency: Two-year results of a randomized, controlled, multicenter trial. J Clin Endocrinol Metab. 2007;92:219-228.

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