A novel mutation detected by temporal temperature gradient gel electrophoresis led to the confirmative prenatal diagnosis of a Hispanic CF family

✍ Scribed by Lee-Jun C. Wong; Jianjun Wang; Marilyn Woo; Evelyn Hsu; C. Michael Bowman

• Publisher: John Wiley and Sons
• Year: 2000
• Tongue: English
• Weight: 108 KB
• Volume: 20
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/1097-0223(200010)20:10<807::aid-pd929>3.0.co;2-a

✦ Synopsis

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 delta F508. 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 delta F508/2105-2117 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.