PMID: 15371907Sep 17, 2004Paper

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: results from a collaborative study

Genetics in Medicine : Official Journal of the American College of Medical Genetics
K G MonaghanWeimin Sun

Abstract

We expect that the mutation panel currently recommended for preconception/prenatal CF carrier screening will be modified as new information is learned regarding the phenotype associated with specific mutations and allele frequencies in various populations. One such example is the I148T mutation, originally described as a severe CF mutation. After implementation of CF population-based carrier screening, we learned that I148T exists as a complex allele with 3199del6 in patients with clinical CF, whereas asymptomatic compound heterozygotes for I148T and a second severe CF mutation were negative for 3199del6. We performed reflex testing for 3199del6 on 663 unrelated specimens, including I148T heterozygotes, compound heterozygotes, and a homozygous individual. Less than 1% of I148T carriers were also positive for 3199del6. Excluding subjects tested because of a suspected or known CF diagnosis or positive family history, 0.6% of I148T-positive individuals were also positive for 3199del6. We identified 1 I148T homozygote and 6 unrelated compound heterozygous individuals with I148T and a second CF variant (2 of whom also carried 3199del6). In addition, one fetus with echogenic bowel and one infertile male were heterozygous for I148T (3...Continue Reading

References

Jan 1, 1996·Journal of Medical Genetics·G CastaldoF Salvatore
Aug 13, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Charles M StromWeimin Sun
Oct 24, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Elizabeth M RohlfsBernice A Allitto
Jan 25, 2003·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Charles M StromWeimin Sun
Nov 25, 2003·American Journal of Human Genetics·Noah A RosenbergJonathan K Pritchard
Mar 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Arlene BullerCharles M Strom

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Citations

Oct 31, 2008·Journal of Assisted Reproduction and Genetics·Agata MinorSai Ma
Nov 7, 2009·Journal of Human Genetics·Monica ForzanMaurizio Clementi
Sep 17, 2004·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Inge M BuyseBenjamin B Roa
Mar 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Andrea Frota RuchonPatrick Scott
Apr 18, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sainan WeiKristin G Monaghan
Jun 17, 2006·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Weimin SunCharles Strom
Nov 17, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Wayne W GrodyMichael S Watson
Jun 6, 2009·The Journal of Pharmacology and Experimental Therapeutics·Antonella CaputoLuis J V Galietta
Aug 22, 2015·European Journal of Pediatrics·Denise M KayNorma P Tavakoli
May 5, 2016·Pharmacogenomics·Thomas R SmithDavid F Kisor
Jun 28, 2016·SpringerPlus·Walaa Aboulkasem ShahinMona Mostafa El-Falaki
Mar 2, 2006·The Journal of Perinatal & Neonatal Nursing·Carolyn SlackLauren Lichten
May 1, 2021·Journal of Personalized Medicine·Onofrio LaselvaChristine E Bear

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