TY - JOUR UR - http://lib.ugent.be/catalog/pug01:171045 ID - pug01:171045 LA - eng TI - Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder PY - 2000 JO - (2000) JOURNAL OF MEDICAL GENETICS SN - 0022-2593 PB - 2000 AU - Mortier, Geert 801001464050 AU - Weis, Mary Ann AU - Nuytinck, Lieve AU - King, Lily M AU - Wilkin, Douglas J AU - De Paepe, Anne GE02 801000461213 0000-0002-4134-5940 AU - Lachman, Ralph S AU - Rimoin, David L AU - Eyre, David R AU - Cohn, Daniel H AB - Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strategy of cartilage protein analysis and COL2A1 mutation analysis. Overmodified type II collagen and the presence of type I collagen was found in the cartilage matrix of all seven cases. Five patients were heterozygous for a nucleotide change that predicted a glycine substitution in the triple helical domain (G313S, G517V, G571A, G910C, G943S). In an five cases, analysis of cartilage type II collagen suggested incorporation of the abnormal al(II) chain in the extracellular collagen trimers. The G943S mutation has been reported previously in another unrelated patient with a strikingly similar phenotype, illustrating the possible specific effect of the mutation. The radiographically less severely affected patient was heterozygous for a 4 bp deletion in the splice donor site of intron 35, likely to result in aberrant splicing. One case was shown to be heterozygous for a single nucleotide change predicted to result in a T1191N substitution in the carboxy-propeptide of the proal(II) collagen chain. Study of the clinical, radiographic, and morphological features of the seven cases supports evidence for a phenotypic continuum between achondrogenesis II-hypochondrogenesis and lethal SEDC and suggests a relationship between the amount of type I collagen in the cartilage and the severity of the phenotype. ER -Download RIS file
| 00000nam^a2200301^i^4500 | |||
| 001 | 171045 | ||
| 005 | 20161219154520.0 | ||
| 008 | 040114s2000------------------------eng-- | ||
| 022 | a 0022-2593 | ||
| 024 | a 000086453000005 2 wos | ||
| 024 | a 1854/LU-171045 2 handle | ||
| 024 | a 10.1136/jmg.37.4.263 2 doi | ||
| 040 | a UGent | ||
| 245 | a Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder | ||
| 260 | c 2000 | ||
| 520 | a Achondrogenesis II-hypochondrogenesis and severe spondyloepiphyseal dysplasia congenita (SEDC) are lethal forms of dwarfism caused by dominant mutations in the type II collagen gene (COL2A1). To identify the underlying defect in seven cases with this group of conditions, we used the combined strategy of cartilage protein analysis and COL2A1 mutation analysis. Overmodified type II collagen and the presence of type I collagen was found in the cartilage matrix of all seven cases. Five patients were heterozygous for a nucleotide change that predicted a glycine substitution in the triple helical domain (G313S, G517V, G571A, G910C, G943S). In an five cases, analysis of cartilage type II collagen suggested incorporation of the abnormal al(II) chain in the extracellular collagen trimers. The G943S mutation has been reported previously in another unrelated patient with a strikingly similar phenotype, illustrating the possible specific effect of the mutation. The radiographically less severely affected patient was heterozygous for a 4 bp deletion in the splice donor site of intron 35, likely to result in aberrant splicing. One case was shown to be heterozygous for a single nucleotide change predicted to result in a T1191N substitution in the carboxy-propeptide of the proal(II) collagen chain. Study of the clinical, radiographic, and morphological features of the seven cases supports evidence for a phenotypic continuum between achondrogenesis II-hypochondrogenesis and lethal SEDC and suggests a relationship between the amount of type I collagen in the cartilage and the severity of the phenotype. | ||
| 598 | a A1 | ||
| 100 | a Mortier, Geert 0 801001464050 0 971290952889 | ||
| 700 | a Weis, Mary Ann | ||
| 700 | a Nuytinck, Lieve u CA20 0 801000672185 | ||
| 700 | a King, Lily M | ||
| 700 | a Wilkin, Douglas J | ||
| 700 | a De Paepe, Anne u GE02 0 801000461213 0 0000-0002-4134-5940 | ||
| 700 | a Lachman, Ralph S | ||
| 700 | a Rimoin, David L | ||
| 700 | a Eyre, David R | ||
| 700 | a Cohn, Daniel H | ||
| 650 | a Biology and Life Sciences | ||
| 653 | a ALPHA-1(II) CHAIN | ||
| 653 | a SERINE SUBSTITUTION | ||
| 653 | a KNIEST-DYSPLASIA | ||
| 653 | a GENE | ||
| 653 | a CARTILAGE | ||
| 653 | a GLYCINE | ||
| 653 | a FAMILY | ||
| 653 | a IDENTIFICATION | ||
| 653 | a spondyloepiphyseal dysplasia congenita | ||
| 653 | a COL2A1 | ||
| 653 | a SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA | ||
| 653 | a ACHONDROGENESIS-HYPOCHONDROGENESIS | ||
| 653 | a type II collagen disorders | ||
| 653 | a achondrogenesis II-hypochondrogenesis | ||
| 773 | t JOURNAL OF MEDICAL GENETICS g J. Med. Genet. 2000. 37 (4) p.263-271 q 37:4<263 | ||
| 856 | 3 Full Text u https://biblio.ugent.be/publication/171045/file/6759167 z [open] y Mortier_2000_JMG_37_4_263.pdf | ||
| 920 | a article | ||
| 852 | x GE b GE02 | ||
| 922 | a UGENT-GE | ||
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