Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening

Steven Keiles; Ruth Koepke; Richard Parad; Martin Kharrazi; California Cystic Fibrosis Newborn Screening Consortium

doi:10.1016/j.jcf.2011.11.010

Impact of IVS8-(TG)m(T)n on IRT and sweat chloride levels in newborns identified by California CF newborn screening

J Cyst Fibros. 2012 May;11(3):257-60. doi: 10.1016/j.jcf.2011.11.010. Epub 2011 Dec 30.

Authors

Steven Keiles¹, Ruth Koepke, Richard Parad, Martin Kharrazi; California Cystic Fibrosis Newborn Screening Consortium

Collaborators

California Cystic Fibrosis Newborn Screening Consortium:
Arnold Platzker, Carlos Milla, Mark Pian, Reddivalam Sudhakar, Christopher Landon, Karen Hardy, Bruce Nickerson, Gregory Shay, Muhammad Saeed, Yvonne Fanous, Eliezer Nussbaum, Myrza Perez, Sanjay Jhawar, Dennis Nielson

Affiliation

¹ Ambry Genetics, Aliso Viejo, CA 92656, USA.

PMID: 22209734
DOI: 10.1016/j.jcf.2011.11.010

Abstract

We examined the relation between the number of (TG) repeats at the (IVS8)-(TG)m(T)5 locus of the CFTR gene with neonatal serum immunoreactive trypsinogen (IRT) and sweat chloride (SC) concentrations in hypertrypsinogenemic infants with genotype ΔF508-9T/5T identified by California cystic fibrosis newborn screening. SC and IRT distributions increased with increasing (TG) repeats.

Publication types

Comparative Study

MeSH terms

California / epidemiology
Child, Preschool
Chlorides / analysis*
Cystic Fibrosis / epidemiology
Cystic Fibrosis / genetics*
Cystic Fibrosis / metabolism
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
DNA / analysis
DNA Mutational Analysis
Female
Genotype
Humans
Incidence
Infant
Infant, Newborn
Male
Mutation*
Neonatal Screening / methods*
Sweat / chemistry*
Trypsinogen / analysis*

Substances

Chlorides
Cystic Fibrosis Transmembrane Conductance Regulator
Trypsinogen
DNA