Clinical spectrum in homozygotes and compound heterozygotes inheriting cystic fibrosis mutation 3849+10kbC>T: Significance for geneticists

Journal Article · Mon Sep 25 04:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320580411· OSTI ID:437149

Gilbert, F; Li, Zhen; Arzimanoglou, I ^[1]

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1. Cornell Univ. Medical College, New York, NY (United States); and others

We describe patients inheriting cystic fibrosis (CF) mutation 3849+10kbC>T as homozygotes or compound heterozygotes. Three unrelated homozygotes for this mutation were all pancreatic-sufficient and sweat test-negative or inconclusive. Among the compound heterozygotes, both pancreatic sufficiency and insufficiency, as well as positive and negative/inconclusive sweat test results are reported, expanding the range of clinical expression associated with inheritance of this mutation. 3849+10kbC>T is one of several CF mutations that can result in atypical or variant forms of CF. For geneticists, the diagnosis of variant CF has implications for recurrence risk and prognosis counseling of the families of affected individuals, and possibly for CF carrier screening in the general population. 19 refs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 437149
• Journal Information: American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 4 Vol. 58; ISSN 0148-7299; ISSN AJMGDA
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
AMINO ACIDS
DETECTION
GENE MUTATIONS
GENES
HEREDITARY DISEASES
HUMAN POPULATIONS
MUTATION FREQUENCY
PATIENTS
PHENOTYPE
POLYMERASE CHAIN REACTION
RECESSIVE MUTATIONS
RESPIRATORY SYSTEM DISEASES
RISK ASSESSMENT
SCREENING