title: An exon 1 deletion in OTC identified using chromosomal microarray analysis in a mother and her two affected deceased newborns: implications for the prenatal diagnosis of ornithine transcarbamylase deficiency.
abstract: We describe the outcome of two consecutive pregnancies with a clinical presentation of ornithine transcarbamylase (OTC) deficiency (OTCD) without a molecular diagnosis. A 119kb deletion on Xp11.4 including the OTC gene was detected in the mother. The same deletion was identified in the blood spots from deceased male newborns. In patients with a clinical and biochemical presentation of OTCD and negative OTC sequencing, whole genome or targeted chromosomal microarray analysis (CMA) with coverage of the OTC and neighboring genes should be performed as a reflex test.
authors.affiliation: Department of Pathology and Laboratory Medicine, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA. fquintero@mednet.ucla.edu
authors.forename: Fabiola
authors.initials: F
authors.lastname: Quintero-Rivera
authors.forename: Joshua L
authors.initials: JL
authors.lastname: Deignan
authors.forename: Jane
authors.initials: J
authors.lastname: Peredo
authors.forename: Wayne W
authors.initials: WW
authors.lastname: Grody
authors.forename: Barbara
authors.initials: B
authors.lastname: Crandall
authors.forename: Maureen
authors.initials: M
authors.lastname: Sims
authors.forename: Stephen D
authors.initials: SD
authors.lastname: Cederbaum
mesh_terms: D000328:Adult; D005091:Exons; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D046228:Microarray Analysis; D020411:Oligonucleotide Array Sequence Analysis; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis* / Q000201:enzymology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011248:Pregnancy Complications / Q000201:enzymology* / Q000235:genetics*; D011296:Prenatal Diagnosis; D017384:Sequence Deletion
chemical_list: D009954:Ornithine Carbamoyltransferase