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.
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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)
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Chemical References |
- DNA Primers
- DNA, Complementary
- Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase
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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
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