Novel Insights from Clinical Practice

Unique Deletion in Exon 5 of SHOX Gene in a Patient with Idiopathic Short Stature
Alan L. Shanske^a, Mala Puri^b, Barbara Marshall^b, Paul Saenger<sup>b

a</sup>Center for Craniofacial Disorders and
^bDivision of Pediatric Endocrinology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, N.Y., USA

Address of Corresponding Author

Horm Res 2007;67:61-66 (DOI: 10.1159/000096087)

  Key Words

• SHOX gene
• Leri-Weill dyschondrosteosis
• Idiopathic short stature
• Madelung deformity
• Pseudoautosomal region

  Abstract

Background/Aim: It is known that haploinsufficiency for the SHOX gene (short-stature homeobox gene on the X chromosome) is responsible for short stature in Turner syndrome and Leri-Weill dyschondrogenesis, and it has been reported that it is responsible for upwards of 1 in 50 cases of idiopathic short stature. SHOX haploinsufficiency is also associated with various radiographic abnormalities, such as coarse trabecular pattern, short metacarpals/metatarsals with metaphyseal flaring, altered osseous alignment at the wrist, radial/tibial bowing, triangularization of the radial head, abnormal tuberosity of the humerus, and an abnormal femoral neck. Shortening and bowing of the radius and dorsal dislocation of the distal ulna characterize the Madelung deformity. These characteristic findings led us to do a study assessing the predictive value of certain radiographic features in association with genetic markers of idiopathic short stature. Methods: Here we describe a case of a Hispanic male with idiopathic short stature and Madelung deformity with a novel mutation in the SHOX gene. Results: Additional studies revealed a strong family history of short stature and the same SHOX mutation segregating from the mother. Conclusion: This case resulted in the description of a novel mutation in exon 5 (M202delA) and suggests the importance of screening for SHOX mutations in patients with idiopathic short stature with subtle radiographic abnormalities, including the components of the Madelung deformity in their bone age films.

Copyright © 2007 S. Karger AG, Basel

  Author Contacts

Alan L. Shanske
Center for Craniofacial Disorders, Children's Hospital at Montefiore
3415 Bainbridge Avenue
Bronx, NY 10467 (USA)
Tel. +1 718 741 2318, Fax +1 718 920 6506, E-Mail ashanske@montefiore.org

  Article Information

Received: December 19, 2005
Accepted: June 20, 2006
Published online: October 6, 2006
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 0, Number of References : 21