Achondroplasia (ACH), a genetic disorder impacting bone growth, necessitates specialized diagnostic solutions for accurate identification and management. Leveraging our company's profound proficiency in achondroplasia diagnostic research, we stand ready to offer customized diagnostic development strategies and full-fledged assistance to expedite your achondroplasia diagnostic research from inception to commercialization.
Overview of Achondroplasia
Achondroplasia (ACH), a rare genetic disorder, represents the most common form of disproportionate short stature or dwarfism. The pathophysiology of achondroplasia lies in the abnormal development of cartilage and bone, particularly in the long bones of the arms and legs. With an estimated incidence of 1 in 15,000 to 1 in 40,000 live births, achondroplasia poses diagnostic challenges due to its genetic complexity and variability in symptoms.
Fig. 1 The cellular mechanism of disease in achondroplasia. (Savarirayan R, et al., 2022)
Pathogenesis of Achondroplasia
Achondroplasia (ACH) typically results from mutations in the fibroblast growth factor receptor 3 (FGFR3) gene, a crucial regulator of bone growth. The FGFR3 gene encodes a receptor that plays a crucial role in regulating bone growth and development. Mutations in this gene result in the constitutive activation of the FGFR3 receptor, leading to aberrant signaling pathways that disrupt normal endochondral ossification.
Effects on Chondrocyte Proliferation and Differentiation
The overactive FGFR3 signaling pathway interferes with the proliferation and differentiation of chondrocytes. This disruption hinders the normal process of cartilage maturation and replacement with bone, leading to the characteristic features of achondroplasia.
Inheritance
Rare genetic diseases may be inherited from one or both parents. These diseases follow specific inheritance patterns, such as autosomal dominant, autosomal recessive, and X-linked inheritance.
Genetic Detection for Achondroplasia
Genetic detection is an important diagnostic method for achondroplasia. This process entails examining the FGFR3 gene for particular mutations linked to the disorder. Molecular methods like polymerase chain reaction (PCR) and sequencing are commonly employed to pinpoint the harmful variations in the FGFR3 gene. Genetic detection not only confirms the diagnosis of achondroplasia but also aids in genetic counseling and family planning for individuals at risk of inheriting the condition.
Fig. 2 Sequencing results showed that the G1138A mutation in the FGFR3 gene caused typical achondroplasia (ACH). (Ergoren, et al., 2021)
Our Services
Our company's unwavering dedication to investing in cutting-edge technologies and top-tier talent underscores our commitment to pioneering the development of groundbreaking diagnostic solutions for achondroplasia. By meticulously unraveling the pathological intricacies of achondroplasia, we are poised to create highly specialized nucleic acid detection reagents/kits capable of pinpointing mutations across diverse sites linked to the FGFR3 gene.
Genetic Detection Sites for Achondroplasia
- G1138A Mutation
- G380R Mutation
- Y373C Mutation
- S249C Mutation
- K650E Mutation
- R248C Mutation
- N540K Mutation
- A391E Mutation
- I538V Mutation
- C278F Mutation
- A391G Mutation
- And More
Diagnostic Development Services
Our services are not limited to the development of detection regents/kits. We can also develop supporting diagnostic equipment to provide a one-stop solution for the diagnosis of achondroplasia. We follow a rigorous development process to ensure the specificity, accuracy and reliability of our diagnostic products.
To enable rapid diagnosis of achondroplasia, we offer point-of-care test and companion diagnostic development services. Through these services, we aim to enhance the diagnostic process, enabling quicker and more accurate assessments of patients' conditions.
If you are interested in our services, please feel free to contact us for more details and quotation information of related services.
References
- Savarirayan R, Ireland P, Irving M, et al. International Consensus Statement on the diagnosis, multidisciplinary management and lifelong care of individuals with achondroplasia[J]. Nature Reviews Endocrinology, 2022, 18(3): 173-189.
- Ergoren, Mahmut C., et al. "Psychomotor Delay in a Child with FGFR3 G380R Pathogenic Mutation Causing Achondroplasia." Global Medical Genetics 8.03 (2021): 100-103.
All of our services and products are intended for preclinical research use
only and cannot be used to diagnose, treat or manage patients.
