Mutation analysis of the PLOD1 gene: an efficient multistep approach to the molecular diagnosis of the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA).
作者： Cecilia Giunta , Ann Randolph , Beat Steinmann
DOI: 10.1016/J.YMGME.2005.04.014
关键词:
摘要: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VIA) is an inheritable connective tissue disorder characterized by a deficiency lysyl hydroxylase due to mutations in PLOD1. We describe mutation analysis strategy for the PLOD1 gene using either cDNA or gDNA combination thereof, which allows reliable, time-effective and efficient detection patients with EDS VIA. report results obtained 9 index from 12 unrelated families: three were homozygous novel (p.Ile454IlefsX2, p.Ala667Thr, p.His706Arg), four common duplication exons 10-16, one patient was compound heterozygous p.Ile454IlefsX2, p.Arg319X.
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