Contiguous gene deletion syndrome in a female with ornithine transcarbamylase deficiency.
OTC deficiency, a partially dominant X-linked trait, is the most frequent inborn error of the urea cycle. We describe a female patient with a contiguous gene deletion syndrome encompassing the OTC, DMD, RPGR, CYBB and XK genes, amongst others, only manifesting features of OTC deficiency. Molecular characterization was ascertained by MLPA and confirmed by CGH microarray, which revealed an 8.7 Mb deletion of the X-chromosome. Complete de novo deletion of the OTC gene led to a severe clinical phenotype in the proband. The application of high resolution molecular genetic techniques such as MLPA and array CGH, in mutation negative OTC cases allows the identification of chromosomal rearrangements, such as large deletions and provides information for accurate genetic counseling and prenatal diagnosis.
Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.
S
S
Balasubramaniam
C
C
Rudduck
B
B
Bennetts
G
G
Peters
B
B
Wilcken
C
C
Ellaway
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D050172:Genes, X-Linked; D006801:Humans; D007223:Infant; D021141:Nucleic Acid Amplification Techniques; D009954:Ornithine Carbamoyltransferase / Q000235:genetics*; D020163:Ornithine Carbamoyltransferase Deficiency Disease / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome
D009954:Ornithine Carbamoyltransferase