Coriell Institute
Familial Dysautonomia Collection

Familial dysautonomia (OMIM # 223900) is a disorder that affects the autonomic and sensory nervous systems. Progressive neuronal degeneration continues throughout life and symptoms include insensitivity to pain and temperature, unstable blood pressure, lack of overflow tears, and recurrent pneumonias. Familial dysautonomia, caused by mutations in the IKBKAP gene (OMIM # 603722), occurs most commonly in the Ashkenazi Jewish population. Two mutations in the IKBKAP gene account for greater than 99% of mutations in the Ashkenazi Jewish population. The major mutation, IVS20+6T>C, accounts for the vast majority of mutations in this population while the minor mutation, R696P, is not commonly identified.

Our collection of familial dysautonomia cell lines comprises eighty-five individuals, thirty-two of whom are affected. Of the thirty-two affected individuals, seven are known to be homozygous for the major mutation in the IKBKAP gene. The collection also includes fifty-three samples from relatives of affected individuals, ten of whom have been identified as carriers of the major mutation.

Detailed clinical information on twenty-three of the affected individuals is summarized in a table and is available for download as an  Excel spreadsheet .

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