Author/Authors :
Ucar, Sema Kalkan Ege University - Medical Faculty - Department of Pediatric Endocrinology and Metabolism, Turkey , Çoker, Mahmut Ege University - Medical Faculty - Department of Pediatric Endocrinology and Metabolism, Turkey , Bertola, Francesca University of Milano-Bicocca - Consorzio per la Genetica Molecolare Umana, Italy , Casati, Giorgio University of Milano-Bicocca - Consorzio per la Genetica Molecolare Umana, Italy , Şimşek, Damla Gökçen Ege University - Medical Faculty - Department of Pediatric Endocrinology and Metabolism, Turkey , Darcan, Şükran Ege University - Medical Faculty - Department of Pediatric Endocrinology and Metabolism, Turkey
Abstract :
Mucopolysaccharidosis type I (MPS I) is a lysosomal disease due to mutations in the gene encoding alpha-L-iduronidase (IDUA) leading to variable clinical phenotypes with progressive severe organomegaly, bone and neurological involvement in the most severe forms. A two-year-old Turkish patient born from consanguineous marriage had an enzymatic and urinary diagnostics suggested a MPS I phenotype. The genetic evaluation revealed c.826_828del3 mutation in the homozygous state, whereas her parents were heterozygous for this mutation. Because of the high frequency of consanguineous marriages in Turkey, identification of the novel mutations permits reliable genetic counseling of at-risk relatives and molecular prenatal diagnosis.
