February, 17 1999
I would like to know if there are researchers interested in getting DNA from a family here at the Nemours Children's Clinic.
My colleague in endocrinology has asked if there might be a group studying the genes involved with Allgrove syndrome. (The Triple A syndrome -- ACTH defect (hereditary adrenocortical unresponsiveness to ACTH), Achalasia, Alacrima, and other neurological abnormalities, including autonomic, sensory, and upper- and lower-motor neuropathy, deafness, and mental retardation.)
The family so far consists of two half-sisters with the same healthy mother. Both have classical ACTH unresponsiveness, one has had severe achalasia requiring intensive GI management.
I am aware of progress on chromosome #12 for this condition. If this family is interested what are specimen requirements, etc.