Journal of Genetic Disorders & Genetic Reports ISSN: 2327-5790

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Case Report, J Genet Disor Genet Rep Vol: 6 Issue: 4

Rare Unusual Coincidence of Leri–Weill Dyschondrosteosis Resulting from a Downstream Enhancer Deletion of SHOX Gene and Neurofibromatosis Type 1

Peleg A, Adir V, Larom-Khan G, Harari Shaham A and Sagi-Dain L*

Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel

*Corresponding Author : Sagi-Dain L
Human Genetics Institute, Lady Davis Carmel Medical Center, 7 Michal Street, Haifa, Israel
Tel: +972-506265842
Fax: +972-48258075
E-mail: [email protected]

Received: November 01, 2017 Accepted: December 06, 2017 Published: December 14, 2017

Citation: Peleg A, Adir V, Larom-Khan G, Harari Shaham A, Sagi-Dain L (2017) Rare Unusual Coincidence of Leri–Weill Dyschondrosteosis Resulting from a Downstream Enhancer Deletion of SHOX Gene and Neurofibromatosis Type 1. J Genet Disor Genet Rep 6:4. doi: 10.4172/2327-5790.1000165

Abstract

We report an unusual coincidence of two Mendelian disorders in a proband presenting with short stature and café-au-lait spots. Genetic testing yielded both a deletion in the downstream enhancer region of SHOX gene related to Leri–Weill dyschondrosteosis, and Neurofibromin gene truncating mutation resulting in Neurofibromatosis 1 phenotype. Pedigree analysis indicated a crossover in the pseudoautosomal region 1 (PAR1) in one of the family members gametes. To the best of our knowledge, this specific combination has not been previously reported.  

Keywords: SHOX; Leri–Weill dyschondrosteosis; Neurofibromatosis 1; Pseudoautosomal region 1

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