A new approach for Next Generation Sequencing in prenatal diagnosis applied to a case of Charcot-Marie-Tooth syndrome.
نویسندگان
چکیده
Complete List of Authors: Dello Russo, Claudio; Altamedica, Fetal-Maternal Medical Centre, Human Genetics padula, francesco; Altamedica, Fetal-Maternal Medical Centre, Prenatal Diagnosis Di Giacomo, Gianluca; Altamedica, Fetal-Maternal Medical Centre, Human Genetics Mesoraca, Alvaro; Altamedica, Fetal-Maternal Medical Centre, Human Genetics Gabrielli, Ivan; Altamedica, Fetal-Maternal Medical Centre, Human Genetics Bizzoco, Domenico; Altamedica, Fetal-Maternal Medical Centre, Human Genetics Giorlandino, Claudio; Altamedica, Fetal-Maternal Medical Centre, Prenatal Diagnosis
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Charcot-Marie-Tooth (CMT) disease is the most common hereditary peripheral neuropathy. More than 50 causative genes have been identified. The lack of genotype-phenotype correlations in many CMT patients make it difficult to decide which genes are affected. Recently, targeted next-generation sequencing (NGS) has been introduced as an alternative approach for diagnosis of genetic disorders. Here,...
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Charcot-Marie-Tooth (CMT) disease is the most prevalent inherited neuropathy. Today more than 40 CMT genes have been identified. Diagnosing heterogeneous diseases by conventional Sanger sequencing is time consuming and expensive. Thus, more efficient and less costly methods are needed in clinical diagnostics. We included a population based sample of 81 CMT families. Gene mutations had previousl...
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Background and aims: Charcot Marie Tooth disease (CMT) is the most prevalent hereditary neuropathy and its frequency is 1 in 2500. CMT is a heterogeneous disease and has different clinical symptoms. The prevalence of CMT and involved genes differ in different countries. CMT patients experience considerable sleep problems and a higher risk of decreased quality of life. In this w...
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عنوان ژورنال:
- Prenatal diagnosis
دوره 35 10 شماره
صفحات -
تاریخ انتشار 2015