PMID- 10471441
OWN - NLM
STAT- MEDLINE
DCOM- 19991008
LR  - 20190727
IS  - 0039-2499 (Print)
IS  - 0039-2499 (Linking)
VI  - 30
IP  - 9
DP  - 1999 Sep
TI  - Mutations in the COL5A1 coding sequence are not common in patients with
      spontaneous cervical artery dissections.
PG  - 1887-90
AB  - BACKGROUND AND PURPOSE: The dermal connective tissue of most patients with
      spontaneous cervical artery dissections (sCAD) contains abnormal collagen fibers.
      This suggests a predisposing connective tissue defect. The ultrastructural
      abnormalities in the skin of patients with sCAD have similarity with the
      morphological alterations in patients with Ehlers-Danlos syndrome type II, a
      dominant hereditary disorder that has been correlated in some patients to
      mutations within the genes encoding type V collagen. The aim of this study was to
      assess the alpha 1 chain of type V collagen (COL5A1) as a candidate gene for
      sCAD. METHODS: We searched for mutations in the COL5A1 gene in cDNA from cultured
      fibroblasts of 19 patients with sCAD using single-strand conformational
      polymorphism analysis and nucleotide sequence analysis of polymerase chain
      reaction-amplified fragments of the whole COL5A1 coding sequence. RESULTS: We
      detected 1 missense mutation leading to a predicted amino acid (192D/N)
      substitution within the N-terminal propeptide in 2 siblings. All other patients
      showed regular COL5A1 sequences with some silent polymorphisms. CONCLUSIONS:
      Mutations in the COL5A1 gene do not appear to be a major factor in the etiology
      of sCAD.
FAU - Grond-Ginsbach, C
AU  - Grond-Ginsbach C
AD  - Department of Neurology, University of Heidelberg, Germany.
FAU - Weber, R
AU  - Weber R
FAU - Haas, J
AU  - Haas J
FAU - Orberk, E
AU  - Orberk E
FAU - Kunz, S
AU  - Kunz S
FAU - Busse, O
AU  - Busse O
FAU - Hausser, I
AU  - Hausser I
FAU - Brandt, T
AU  - Brandt T
FAU - Wildemann, B
AU  - Wildemann B
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Stroke
JT  - Stroke
JID - 0235266
RN  - 0 (Protein Isoforms)
RN  - 9007-34-5 (Collagen)
SB  - IM
MH  - Adult
MH  - Alleles
MH  - Amino Acid Sequence/genetics
MH  - Aneurysm, Dissecting/*genetics
MH  - Collagen/*genetics
MH  - Female
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Mutation/*genetics
MH  - Neck/*blood supply
MH  - Polymerase Chain Reaction
MH  - Polymorphism, Single-Stranded Conformational
MH  - Protein Isoforms/genetics
EDAT- 1999/09/02 00:00
MHDA- 1999/09/02 00:01
CRDT- 1999/09/02 00:00
PHST- 1999/09/02 00:00 [pubmed]
PHST- 1999/09/02 00:01 [medline]
PHST- 1999/09/02 00:00 [entrez]
AID - 10.1161/01.str.30.9.1887 [doi]
PST - ppublish
SO  - Stroke. 1999 Sep;30(9):1887-90. doi: 10.1161/01.str.30.9.1887.