Our laboratory has studied families with Carney complex (CC) (also known as the "complex of myxomas, spotty skin pigmentation, endocrine overactivity and schwannomas") and related syndromes.
Through genetic linkage analysis, the participation of the two genomic loci harboring genes for CC (on chromosomes 2 and 17) in the expression of the disease is being investigated. A comprehensive genetic and physical map of the 2p16 chromosomal region was constructed for the cloning of CC-causing gene(s).
Studies in cultured primary tumor cell lines (established from our patients) identified a region of amplification in the center of this map. A new method was described by Dr. Kirschner for the use of bacterial artificial chromosomes (BACs); novel genes, including a G-protein coupled receptor, have been identified by our laboratory and its collaborators. In collaboration with Mayo Clinic, the genetic defects in patients with CC-related syndromes (i.e. Peutz-Jeghers syndrome) are being identified.
A genome wide screen is also ongoing in our laboratory for the identification of the gene(s) responsible for inherited adrenocortical aldosteronomas (familial hyperaldosteronism type-II); additional work is being done collaboratively on the genetics of childhood adrenocortical cancer and pituitary tumors.
Dr. Stratakis also the Program Director for Pediatric Endocrinology at the NIH and a member of the Medical Advisory Board for the Cushing's Support and Research Foundation .
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