Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency of lysyl hydroxylase due to mutations in PLOD1. We describe a mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA or a combination thereof, which allows for reliable, time-effective and efficient mutation detection in patients with EDS VIA. We report the results obtained in 9 index patients from 12 unrelated families: three patients were homozygous for three novel mutations (p.Ile454IlefsX2, p.Ala667Thr, and p.His706Arg), four patients were homozygous for the common duplication of exons 10-16, one patient was compound heterozygous for the common duplication and p.Ile454IlefsX2, and one patient was homozygous for p.Arg319X.
Division of Metabolism and Molecular Pediatrics, University Children's Hospital, CH-8032 Zurich, Switzerland. cecilia.giunta@kispi.unizh.ch
Cecilia
C
Giunta
Ann
A
Randolph
Beat
B
Steinmann
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D017931:DNA Primers; D018076:DNA, Complementary; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D005260:Female; D006720:Homozygote; D006801:Humans; D007738:Kyphosis / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D016133:Polymerase Chain Reaction; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase / Q000737:chemistry / Q000235:genetics*; D017386:Sequence Homology, Amino Acid
D017931:DNA Primers; D018076:DNA, Complementary; D008240:Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase