Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

Sawai, Hideaki; Ida, Akinori; Nakata, Yoshitaka; Koyama, Koji

doi:10.1007/s100380050085

Cited by 10 publications

(4 citation statements)

References 11 publications

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“…Most of the mutations reside in the carboxyterminal globular domain (CN1) while two mutations are in a putative signal peptide cleavage site. [3][4][5][6][7][8] Despite thorough mutation screening in COL10A1, no mutations have been identified in a number of MCDS patients. 9 10 We have recently reported on 46 RMRP (OMIM # 157660) mutations causing recessively inherited cartilage-hair hypoplasia (CHH, OMIM # 250250), another type of metaphyseal chondrodysplasia.…”

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confidence: 99%

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Ridanpää

Ward²,

Rockas³

et al. 2003

Journal of Medical Genetics

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Background: The Schmid type of metaphyseal chondrodysplasia (MCDS) is generally due to mutations in COL10A1 encoding for type X collagen of cartilage. Methods: We performed a study on the genes coding for the RNA components of RNase MRP (MRPR) and RNase P (H1RNA) among 20 patients with diagnosis of MCDS and no mutations in COL10A1. Results: Two patients were found to be homozygous for a base substitution G for A at nucleotide 70 of RMRP, which is the major mutation causing cartilage-hair hypoplasia. No pathogenic mutations were detected in H1RNA. Conclusion: Cartilage-hair hypoplasia diagnosis should be considered in patients with metaphyseal chondrodysplasia even in the absence of any extra-skeletal manifestations if no mutation in COL10A1 can be found and the family history is compatible with autosomal recessive inheritance. Correct diagnosis is important for genetic counselling and for proper follow up of the patients.

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confidence: 99%

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Ridanpää

Ward²,

Rockas³

et al. 2003

Journal of Medical Genetics

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“…SMCD is an autosomal dominant cartilage disorder (Reichenberger et al 1992) characterized by shortlimbed short stature, bowed legs, and a waddling gait (Sawai et al 1998). The majority of reported mutations associated with SMCD are in the region of the gene that encodes the NC1 domain (Bateman et al 2005).…”

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Deletions in the COL10A1 gene are not associated with skeletal changes in dogs

2006

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Abstract:Type 10 collagen alpha 1 (COL10A1) is a short-chain collagen of cartilage synthesized by chondrocytes during the growth of long bones. COL10A1 mutations, which frequently result in COL10A1 haploinsufficiency, have been identified in patients with Schmid metaphyseal chondrodysplasia (SMCD); a cartilage disorder characterized by shortlimbed short stature and bowed legs. Similarities between SMCD and short stature in various dog breeds suggested COL10A1 as a candidate for canine skeletal dysplasia. We report the sequencing of the exons and promoter region of the COL10A1 gene in dog breeds fixed for a specific type of skeletal dysplasia known as chondrodysplasia, breeds that segregate the skeletal dysplasia phenotype and control dogs of normal stature. Thirteen single nucleotide polymorphisms (SNPs), one insertion and two deletions, one of which introduces a premature stop codon and likely results in nonsense mediated decay and the degradation of the mutant allele product, were identified in the coding region. There appear to be no causal relationships between the polymorphisms identified in this study and short stature in dogs. Although COL10A1 haploinsufficiency is an important cause of SMCD in humans, it does not seem to be responsible for the skeletal dysplasia phenotype in these dog breeds. In addition, homozygosity for the nonsense allele does not result in the observed canine skeletal dysplasia phenotype.Introduction:

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“…3. Most mutations reside in the noncollagenous carboxyl terminal globular domain (CN1) which contains motifs that promote trimerization of α1(X) chains and subsequent formation of the triple helix to yield stable collagen X molecules (Bonaventure et al 1995;Sawai et al 1998;Ridanpää et al 2003;Higuchi et al 2016). 4.…”

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confidence: 99%

Schmid Metaphyseal Chondrodysplasia

Chen¹

2016

Atlas of Genetic Diagnosis and Counseling

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Novel missense mutation resulting in the substitution of tyrosine by cysteine at codon 597 of the type X collagen gene associated with Schmid metaphyseal chondrodysplasia

Cited by 10 publications

References 11 publications

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Genetic changes in the RNA components of RNase MRP and RNase P in Schmid metaphyseal chondrodysplasia

Deletions in the COL10A1 gene are not associated with skeletal changes in dogs

Schmid Metaphyseal Chondrodysplasia

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