Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).

Abstract

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.

• Authors: Cecilia Giunta, Ann Randolph, Beat Steinmann
• Journal: Molecular genetics and metabolism (Mol Genet Metab) 2005 Sep-Oct Vol. 86 Issue 1-2 Pg. 269-76 ISSN: 1096-7192 [Print] United States
• PMID: 15979919 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA Primers
• DNA, Complementary
• Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase

Topics

• Adolescent
• Adult
• Amino Acid Sequence
• Animals
• Base Sequence
• Child
• Child, Preschool
• DNA Primers
• DNA, Complementary
• Ehlers-Danlos Syndrome (diagnosis, genetics)
• Exons
• Female
• Homozygote
• Humans
• Kyphosis (diagnosis, genetics)
• Male
• Molecular Sequence Data
• Mutation
• Polymerase Chain Reaction
• Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase (chemistry, genetics)
• Sequence Homology, Amino Acid