CLINICAL SPECTRUM IN HOMOZYGOTES AND COMPOUND HETEROZYGOTES INHERITING CYSTIC-FIBROSIS MUTATION 3849-GREATER-THAN-T - SIGNIFICANCE FOR GENETICISTS(10KBC)

We describe patients inheriting cystic fibrosis (CF) mutation 3849+10k b>T as homozygotes or compound heterozygotes. Three unrelated homozygo tes for this mutation were all pancreatic-sufficient and sweat test-ne gative or inconclusive. Among the compound heterozygotes, both pancrea tic sufficiency and insufficiency, as well as positive and negative/in conclusive sweat test results are reported, expanding the range of cli nical expression associated with inheritance of this mutation, 3849+10 kbC>T is one of several CF mutations that can result in atypical or va riant forms of CF. For geneticists, the diagnosis of variant CF has im plications for recurrence risk and prognosis counseling of the familie s of affected individuals, and possibly for CF carrier screening in th e general population. (C) 1995 Wiley-Liss, Inc.