Ask about this productRelated genes to: CRTAP Blocking Peptide
- Gene:
- CRTAP NIH gene
- Name:
- cartilage associated protein
- Previous symbol:
- -
- Synonyms:
- CASP, LEPREL3, P3H5
- Chromosome:
- 3p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 1999-10-19
- Date modifiied:
- 2019-04-23
Related products to: CRTAP Blocking Peptide
Related articles to: CRTAP Blocking Peptide
- This case report describes a newborn diagnosed with Type VII Osteogenesis Imperfecta (OI) following an incidental finding of rib fractures during evaluation for pneumonia. The patient presented with multiple fractures, including deformities and callus formations in the ribs and extremities, initially raising concerns for differential diagnoses such as rickets. Imaging studies revealed characteristic skeletal abnormalities, including rachitic rosary-like rib deformities and multiple fractures of varying ages. Genetic testing confirmed a Cartilage-associated Protein (CRTAP) mutation, consistent with Type VII OI. This case underscores the diagnostic challenges posed by rare forms of OI, particularly in distinguishing them from other conditions with similar presentations. Early identification through imaging and genetic testing, followed by appropriate therapeutic interventions such as bisphosphonate therapy and orthopedic management, is crucial for improving patient outcomes. This report highlights the importance of considering OI in the differential diagnosis of pediatric patients presenting with fractures and skeletal deformities, even when initially evaluated for unrelated conditions. - Source: PubMed
Publication date: 2026/04/19
Parviz SamanehHooshyar Dariush - Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous skeletal fragility disorder. Although COL1A1/COL1A2 variants account for most cases, non-COL1A genes and overlapping monogenic bone fragility conditions complicate diagnosis and genotype-phenotype interpretation in routine practice. We aimed to describe the clinical spectrum and molecular findings of patients evaluated for suspected or confirmed OI at a tertiary referral center, and to assess phenotype patterns across genotype-informed groups. - Source: PubMed
Publication date: 2026/03/02
Ozer EmreKilic EsraTuran Husnu MutluAltan MustafaTopcu VehapTurhan BanuBitkay AbdurrahmanKocaay PinarBoyraz MehmetGurbuz Fatih - Osteogenesis imperfecta is a rare hereditary disorder affecting bone and connective tissue. While most cases are linked to autosomal dominant mutations in the COL1A1 and COL1A2 genes, FKBP10 variants are associated with the autosomal recessive form of OI, type XI. The study represents the first cohort-based evaluation of the FKBP10 mutational spectrum in Iranian patients, leading to the discovery of a novel variant. - Source: PubMed
Publication date: 2025/11/01
Hoseinbeyki MoslemMoradifard ShirinMirkhani FatemehShariati Fatemeh SadatEhsani ParastooAlaei Mohammad RezaEbrahimi-Rad Mina - PURPOSE: Osteogenesis imperfecta (OI) usually follows an autosomal dominant inheritance pattern. We aimed to explore the epidemiological impact of autosomal recessive OI in a pediatric population and expand the mutational repertoire in this cohort. METHODS: We presented our six-year (2018–2024) monocentric next-generation sequencing diagnostic activity on 93 unrelated children with a suspicion of OI. Variants were classified according to the American College of Medical Genetics and Genomics recommendations. RESULTS: (Likely) pathogenic variants (PLP) or variants of uncertain significance were identified in 61.3% cases (57/93), with conclusive results (i.e. a heterozygous PLP in dominant genes, or biallelic PLP in recessive genes) in 59.1% (55/93). According to age, the rate of conclusive results was 84.0% (21/25), 52.7% (24/46) and 45.4% (10/22) in individuals aged 0–3 years, 4–12 years and 13–16 years, respectively. Six individuals out of 55 (11.0%) with conclusive results had biallelic PLP variants in autosomal recessive genes, among which we found three novel variants in SERPINF1 and WNT1, and confirmed OI as a possible phenotype due to PLOD2 abnormalities. CONCLUSIONS: In our cohort of 93 Italian patients with a suspicion of OI, autosomal recessive OI was epidemiologically significant. Such a diagnostic perspective represents the prerequisite to combine multiprofessional and extended genetic testing assessments in children with OI to improve their diagnosis, management and treatment. - Source: PubMed
Publication date: 2025/10/31
Guarnieri VitoCelli LucaDe Luca ChiaraZambrano AnnaFaienza Maria FeliciaVitale Rossellade Gasperis NicolaTamburrino FedericaScarano EmanuelaDi Fabio SandraBrancati FrancescoCelli MauroCastori Marco - Osteogenesis imperfecta (OI) is a genetically heterogeneous connective tissue disorder marked by bone fragility and deformities. This study aimed to define the clinical and molecular characteristics of 21 OI patients from 15 unrelated Egyptian families. Most probands were analyzed by exome sequencing. In three consanguineous cases, variants were identified through SNP array-based homozygosity mapping followed by direct sequencing of a candidate gene. Genotype-phenotype correlations were additionally explored. Parental consanguinity was documented in 66.7% (10/15) of the total cohort and in 100% (8/8) of the families with autosomal recessive OI. Pathogenic or likely pathogenic variants were identified in 14 families, five of which were novel. A variant of uncertain significance was identified in the remaining family. COL1A1 and COL1A2 (n = 7) were the most commonly mutated genes, followed by CRTAP (n = 4), while variants in P3H1, WNT1, CREB3L1, and SEC24D were each identified in a single patient. The present study highlights the molecular heterogeneity of OI. In total, 15 distinct variants in seven OI-related genes were identified. We also report a particularly high number of OI lethal forms affecting 10 patients out of 21. The study adds further evidence for the utility of ES in the genetic diagnosis of OI, which facilitates counseling and personalized care. - Source: PubMed
Publication date: 2025/10/15
Elhady GhadaAmin Asmaa KIturrate AsierEl-Dessouky SaraNevado JulianCampos-Xavier BelindaMatsa Lova SGiunta CeciliaLapunzina PabloRuiz-Perez Victor LAbdalla Ebtesam