Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie

Kaissi, Ali Al; Laccone, Franco; Karner, C.; Rudolf, G.; Klaushofer, Klaus; Grill, Franz

doi:10.1007/s00132-013-2182-1

Cited by 7 publications

(3 citation statements)

References 19 publications

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“…Three fetuses were found to have heterozygous mutations of COL2A1 (c.1636G>A, c.1070 G>C, c.4A>T), which have been associated with various types of osteogenic dysplasia (Deng, Huang, & Yuan, 2016). (Al Kaissi et al, 2013) described a patient with a c.1636G>A mutation of COL2A1 who presented with hip dysplasia and spinal osteochondritis. The COL2A1 mutation c.1070G>C, which was found in fetus 23, has been associated with protein effects by bioinformatics predictive analysis, leading us to conclude that this mutation is likely pathogenic, although further study is needed.…”

Section: Discussionmentioning

confidence: 99%

Clinical value of genetic analysis in prenatal diagnosis of short femur

Liu

Huang

et al. 2019

Molec Gen & Gen Med

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BackgroundFetal femur length (FL) is an important biometric index in prenatal screening. The etiology of short femur is diverse, with some pathogenic causes leading to adverse outcomes. To improve the accuracy and practicability of diagnosis, we investigated the value of genetic analysis in prenatal diagnosis of short femur.MethodsWe examined chromosomal microarray analysis (CMA) (64 fetuses) and karyotyping (59 fetuses) data retrospectively for short femur without fetal growth restriction (FGR). Genetic testing was conducted for 15 fetuses.ResultsKaryotyping and CMA detected chromosomal aberrations at rates of 13.6% and 27.2%, respectively. Among fetuses with other abnormalities, detection rates were 21.0% higher with CMA than karyotyping. CMA identified chromosomal abnormalities in 36.4% of cases with a FL 2–4 standard deviations (SDs) below the gestational age (GA) mean. Abnormality detection by CMA reached 38.5% in the second trimester. Duplication of 12p, 16p13.1 deletion, and uniparental disomy 16 were identified by CMA in three cases of short femur. Gene sequencing detected clinically notable mutations in 12/15 fetuses, among which 9/12 fetuses had FLs >4 SDs below the GA mean.ConclusionsCMA yielded a higher detection value than karyotyping in fetuses with other abnormalities or a FL 2–4 SDs below the GA mean during the second trimester. Gene sequencing should be performed when FL is >4 SDs below the mean.

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Section: Discussionmentioning

confidence: 99%

Clinical value of genetic analysis in prenatal diagnosis of short femur

Liu

Huang

et al. 2019

Molec Gen & Gen Med

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“…In addition, marked metaphyseal abnormalities were noted in one of our patients (III-3), which was distinct from the phenotypes of Xu et al’s patients. Kaissi et al reported another patient of a c.G1636A mutation in a patient in Germany [21]. As the authors stated in the English abstract, the patient was characterized by short stature associated with acetabulo femoral dysplasia, spinal osteochondritis (Scheuermann’s disease), and mild thoracic kyphosis.…”

Section: Discussionmentioning

confidence: 99%

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

Chen

Zhou

et al. 2017

BMC Pediatr

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BackgroundMutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the glycine to bulky amino acid substitutions (e.g., glycine to serine) in the Gly-X-Y repeat were identified frequently. However, the same COL2A1 mutations are associated with different phenotypes and the genotype-phenotype relationship is still poorly understood. Therefore, the studies of more patients about the recurrent mutations in COL2A1 will be needed for further research to provide more comprehensive clinical and genetic data. In this paper, we report a rare recurrent c.G1636A (p.G546S) mutation in COL2A1 associated with different metaphyseal changes in a Chinese family.Case presentationThe proband (III-3) was the second child of the family with skeletal dysplasia. She was 2 years and 3 months old with disproportional short stature, short neck, pectus carinatum, genu varum, bilateral pes planus, and obvious waddling gait. Notably, she displayed severe metaphyseal lesions, especially typical “dappling” and “corner fracture” appearance, whereas no particular metaphyseal involvement was detected in the proband’s mother (II-3) and elder sister (III-2) in the family. We identified a heterozygous mutation (c.1636G > A) in COL2A1 in the three patients, causing the substitution of glycine to serine in codon 546. Although the same mutation has been reported in two previous studies, the phenotypes of the previous patients were different from those of our patients, and the characteristic “dappling” and “corner fracture” metaphyseal abnormalities were not reported previously.ConclusionsIn this study, we identified a c.G1636A (p.G546S) mutation in the COL2A1 associated with different metaphyseal changes, which was never reported in the literature. Our findings revealed a different causative amino acid substitution (glycine to serine) associated with the “dappling” and “corner fracture” metaphyseal abnormalities, and may provide a useful reference for evaluating the phenotypic spectrum and variability of type II collagenopathies.

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“…For instance, a patient harboring an Arg 75 -Cys mutation in the collagen type II alpha 1 ( COL2A1 ) gene was found to experience childhood-onset progressive osteoarthritis and vertebral changes, similar to Scheuermann’s disease [ 18 ]. Another mutation in the COL2A1 gene (c.1636G > A, p.G546S) was detected in a girl presenting with hip dysplasia and Scheuermann’s osteochondritis [ 19 ]. The tryptophan allele of the collagen type IX alpha 3 ( COL9A3 ) gene has also been associated with Scheuermann’s disease and intervertebral disk degeneration [ 20 ].…”

Section: Discussionmentioning

confidence: 99%

Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

Wang

Teng

et al. 2021

BMC Musculoskelet Disord

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Background Osteogenesis imperfecta (OI) is a heterogeneous connective tissue disorder characterized by increased bone fragility and a series of extraskeletal manifestations. Approximately 90 % of OI cases are caused by type I collagen variants encoded by the collagen type I alpha 1 (COL1A1) or type I alpha 2 (COL1A2) gene. Lumbar Scheuermann’s disease is an atypical type of Scheuermann’s disease accompanied by Schmorl’s nodes and irregular endplates but without pronounced kyphosis. Although the etiology of Scheuermann’s disease is unclear, genetic and environmental factors are likely. Case presentation Here, we report a 32-year-old male patient who experienced multiple brittle fractures. Gene sequencing revealed a heterozygous mutation, c.4048G > A (p.G1350S), in the COL1A2 gene, and the patient was diagnosed with OI. Magnetic resonance imaging of his thoracolumbar spine revealed multiple Schmorl’s nodes. Conclusions This is the first reported case of OI coexisting with the spinal presentation of Scheuermann’s disease. It is speculated that the COL1A2 gene mutation might be an underlying novel genetic cause of Scheuermann’s disease. In conclusion, this case demonstrates the relationship between Scheuermann’s disease and OI for the first time and enriches the genotype-phenotype spectrum of OI.

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Hüftdysplasie und Morbus Scheuermann bei einem Mädchen mit Typ-II-Kollagenopathie

Abstract: Hip dysplasia and Scheuermann's osteochondritis have never been reported in connection with a mutation in COL2A1 (collagenopathy type II). Awareness is needed for careful phenotypic and genotypic characterization in patients with irritable hip pain and spinal stiffness.

Cited by 7 publications

References 19 publications

Clinical value of genetic analysis in prenatal diagnosis of short femur

Clinical value of genetic analysis in prenatal diagnosis of short femur

Recurrent c.G1636A (p.G546S) mutation of COL2A1 in a Chinese family with skeletal dysplasia and different metaphyseal changes: a case report

Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

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