Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues

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RASopathies Gene Panel

Dr. rer. biol. hum. Soheyla Chahrokh-Zadeh

The “RASopathies” is the term for a clinically and genetically heterogeneous group of disorders that are caused by germline mutations in genes that encode protein components of the Ras/mitogen-activated-protein kinase pathway. Besides the listed disorders, neurofibromatosis type 1 (NF1 gene) and Legius syndrome (SPRED1 gene) can be classified into this group as well. Clinical symptoms affect several organ systems (integumentary, cardiovascular system, musculoskeletal system, gastrointestinal tract, CNS, eye) are affected. Some syndromes are characterized by certain craniofacial features; some are marked by an increased risk for tumors. The syndromes overlap significantly in there signs and symptoms, which may complicate establishing a clear diagnosis and targeted diagnostic procedures. Moreover, several of these disorders may be caused by mutations in various genes of the Ras/MAPK pathway. Therefore, stepwise diagnostics using next generation sequencing (NGS) may be useful.

Method

All coding exons and their flanking intronic sequences from the genes in the RASopathies gene panel are analyzed either by Sanger sequencing or by next generation sequencing (NGS).