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A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family
Author(s) -
Wong LeeJun C.,
Wang Jianjun,
Woo Marilyn,
Hsu Evelyn,
Michael Bowman C.
Publication year - 2000
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/1097-0223(200010)20:10<807::aid-pd929>3.0.co;2-a
Subject(s) - prenatal diagnosis , mutation , cystic fibrosis transmembrane conductance regulator , cystic fibrosis , heterozygote advantage , genetics , compound heterozygosity , genetic counseling , biology , carrier testing , δf508 , gene , genetic testing , genotype , fetus , medicine , pregnancy
Mutational analysis of 30 recurrent known mutations detects only about 58% of Hispanic cystic fibrosis (CF) chromosomes. The low mutation detection rate has greatly hindered prenatal diagnosis and carrier testing of Hispanic families who have multiple affected children with unidentified cystic fibrosis transmembrane conductance regulator (CFTR) mutations. We recently employed a temporal temperature gradient gel electrophoresis (TTGE) method to effectively scan unknown mutations in the entire CFTR gene. A novel mutation, 2105‐2117 del13insAGAAA was identified in a Hispanic family heterozygous for ΔF508. The discovery of the devastating mutation facilitated the prenatal diagnosis for this family who already had two severely affected children. The fetus was found to be a compound heterozygote of ΔF508/2105‐2117 del13insAGAAA. This case emphasizes the importance of whole gene mutational analysis in patients with a clinical diagnosis of CF, but without the identifiable DNA mutations by routine mutation analysis. Finding of CF mutations in the patient would allow proper genetic counselling and prenatal and carrier detection of at‐risk family members. Copyright © 2000 John Wiley & Sons, Ltd.