Genetic and functional studies reveal a novel noncoding variant in GALT associated with a false positive newborn screening result for galactosemia.

ABSTRACT:

Background

Classic galactosemia (CG) is a potentially lethal genetic disorder that results from profound loss of galactose-1-phosphate uridylyltransferase (GALT). CG is detected by newborn screening (NBS) in many countries; however, conclusive diagnosis can be complex due to broad and overlapping ranges of GALT activity. Molecular studies can also be complex due to allelic heterogeneity at the GALT locus.

Methods

We conducted both biochemical and molecular follow-up studies for an infant flagged by NBS for possible galactosemia. To clarify the diagnosis we also conducted biochemical and RNA studies of lymphoblasts prepared from the child and one parent.

Results

We identified a novel noncoding GALT variant, c.377+17C>T, that was homozygous in the child and heterozygous

SUBMITTER: Liu Y 

PROVIDER: S-EPMC4449829 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature