[Updated 2014 Dec 18]. Familial Dysautonomia. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Slaugenhaupt SA, Blumenfeld A, Gill SP, et al. (2001). Tissue-Specific Expression of a Splicing Mutation in the IKBKAP Gene Causes Familial Dysautonomia. American Journal of Human Genetics. 68(3): 598-605.
What is Familial Dysautonomia?
Familial dysautonomia is a progressive neurodegenerative disorder characterized by disrupted development and maintenance of nerve cells in the autonomic nervous system. It can lead to pulmonary complications and sudden death if left untreated. Common symptoms arise from problems with controlling involuntary actions such as difficulties in digestion, inability to produce tears, poor regulation of body temperature and blood pressure. The sensory nervous system can also be affected, which involves lack of taste buds, reduced sensitivity to pain, heat and cold. Some may have developmental delay in motor, speech or social skills, learning disabilities, balance difficulties, repeated lung infections or impaired renal function. Familial dysautonomia is caused by mutations in the IKBKAP gene. This gene encodes the IKK complex-associated protein (IKAP), but the exact function is yet unknown. Mutations in the IKBKAP gene can prevent or reduce the production of normal IKAP protein, particularly in brain cells. Two specific mutations, c.2204+6T>C and R696P, are commonly found in Ashkenazi Jewish individuals with familial dysautonomia. These mutations reduce the amount of IKAP protein, affecting critical activities in the brain cells and leading to the neurological damage and other complications associated with familial dysautonomia. References: Jose CP, Ferreira MD, Schreiber-Agus N, Carter SM, Klugman S, MDa, Gregg AR, Gross SJ (2014). Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze. American Journal of Obstetrics and Gynecology. 211(3): 197-204. Shohat M, Weisz Hubshman M (2003)DNA In the News2017-04-06T21:06:11+00:00