title: Genetics of neurocutaneous disorders: basic principles of inheritance as they apply to neurocutaneous syndromes.
abstract: Neurocutaneous disorders vary widely in clinical presentation as well as genetic cause and inheritance pattern. Recent advancements in genetic research have identified many of the causal genes for neurocutaneous disorders, allowing families to receive genetic testing and genetic counseling to better understand carrier risks, recurrence risks for future generations, and reproductive options such as prenatal testing and preimplantation diagnosis. Examples of specific neurocutaneous disorders are utilized to illustrate the various inheritance patterns seen in this heterogeneous group of disorders, including autosomal dominant, autosomal recessive, X-linked dominant, X-linked recessive, de novo, and somatic and germline mosaicism.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
authors.forename: Kira A
authors.initials: KA
authors.lastname: Dies
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA. Electronic address: Mustafa.Sahin@childrens.harvard.edu.
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sahin
mesh_terms: D005192:Family Health; D005260:Female; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D020752:Neurocutaneous Syndromes / Q000235:genetics*; D010375:Pedigree
keywords: Inheritance; allele; genetic counseling; genetic testing; mutation; pedigree; recurrence risk