A multiplex assay for the detection and mapping of complex glycerol kinase deficiency

Roger D. Klein, Erik C. Thorland, Patrick R. Gonzales, Patricia A. Beck, Daniel J. Dykas, James M. McGrath, Allen E. Bale

Research output: Contribution to journalArticlepeer-review

9 Scopus citations

Abstract

Background: Glycerol kinase deficiency (GKD) is an X-linked recessive disorder that presents in both isolated and complex forms. The contiguous deletion that leads to GKD also commonly affects NR0B1 (DAX1), the gene associated with adrenal hypoplasia congenita, and DMD, the Duchenne muscular dystrophy gene. Molecular testing to delineate this deletion is expensive and has only limited availability. Methods: We designed a multiplex PCR assay for the detection and mapping of a contiguous deletion potentially affecting the IL1RAPL1, NR0B1, GK, and DMD genes in a 29-month-old male patient with GKD. Results: Multiplex PCR detected a contiguous deletion that involved the IL1RAPL1, NR0B1, GK, and DMD genes. Although the patient had a creatine kinase concentration within the reference interval, further mapping with PCR revealed that exon 74 was the last intact exon at the 3′ end of the DMD gene. Conclusions: Multiplex PCR is an effective and inexpensive way to detect and map the contiguous deletion in cases of complex GKD. The extension of a deletion to include DMD exon 75 in a patient with a creatine kinase concentration within the reference interval suggests that this region of the gene may not be essential for protein function.

Original languageEnglish (US)
Pages (from-to)1864-1870
Number of pages7
JournalClinical chemistry
Volume52
Issue number10
DOIs
StatePublished - Oct 2006

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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