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Hindi Journal of Genetic Disorders & Genetic ReportsISSN: 2327-5790
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Harari Shaham A Author
Subjects of specialization
Affiliation
SHOX; Leri?Weill dyschondrosteosis; Neurofibromatosis 1; Pseudoautosomal region 4
Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel
Biography
| Harari Shaham A Human Genetics Institute, Lady Davis Carmel Medical Center, Haifa, Israel |
Publications
Case Report Subscription
Rare Unusual Coincidence of Leri–Weill Dyschondrosteosis Resulting from a Downstream Enhancer Deletion of SHOX Gene and Neurofibromatosis Type 1
Author(s): Peleg A, Adir V, Larom-Khan G, Harari Shaham A and Sagi-Dain L
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.
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