© 2017, GENASSIST, Inc.
By Keith S. Wexler, MBA, Maternal Fetal Medicine, Prenatal Diagnosis and Biotech/Life Sciences Consultant, GENASSIST, Inc.
Paul Wexler, M.D., F.A.C.O.G., Medical Director, GENASSIST, Inc.
Clinical Professor, Department of OB/GYN, University of Colorado Health Sciences Center
Clinical Professor, Division of Genetics/Dept. of Pediatrics, Univ. of Colorado/The Children’s Hospital
Cortical Dysplasia Focal Epilepsy Syndrome: Is due to a failure of migration of neurons in the brain often resulting in intractable epilepsy and in some cases Autism and/or Autism Spectrum Disorders (ASD).
Mutations or deletions in the NRXN1 gene at chromosome 2p16.3 have been reported in some of these cases.
It is estimated that there are between 4,000 and 20,000 diseases (with over 7000 rare genetic diseases) and several companies are offering screening panels for the carrier state of several hundred conditions and the possible predisposition for various cancers including some hematologic and neurologic malignancies.
Analysis: One of the greatest dilemmas facing the healthcare provider is when a family presents with a positive family history of a very rare genetic disease and/or syndrome (e.g. Cortical Dysplasia Focal Epilepsy Syndrome) and the family wants to know from the healthcare provider:
- Whether the disease and/or syndrome is inherited (autosomal dominant manner (50%), autosomal recessive (25% if both parents are gene carriers) or sex (X) linked (50% of males will be affected, 50% of females will be carriers), multifactorial (interaction of multiple genes with the environment, both genetic and non-genetic factors).
- Whether the disease and/or syndrome is sporadic (due to a new mutation) and might or might not reoccur in a family
- Whether there is testing for the disease and/or syndromeFurthermore, if screening and/or testing is available, the healthcare provider has the responsibility of deciding whether to recommend testing which may or may not detect patients who are carriers or affected with one or more disorders.
[*A recent study, that is ongoing, has suggested a possible relationship between maternal age (35 years or older) and/or paternal age (greater than 40 years) and autism and/or autism spectrum disorder(s) in a child. Reference: Israel & Mt. Sinai, NY. *Some recent studies have suggested risk may be as high as 1:50 to 1:80.]