Genetic and clinical evaluation of patients suspected to Primordial dwarfism

Primordial dwarfism (PD) is a very rare form of dwarfism that results in a shortened body at all stages of life, even before birth. Different gene mutations cause the different conditions that make up primordial dwarfism. Because the problem is in the genes that control cell growth, and not a deficiency of growth hormone, treatment with growth hormone does not affect most types of primordial dwarfism. Diagnosis of primordial dwarfism can be difficult because small size and low body weight can be a sign of other disorders, such as malnutrition or metabolic disorders. Diagnosis is based on family history, physical features, and careful examination of X-rays and other imaging. Genetic testing is also now available to help confirm the types of primordial dwarfism. The Institute's Endocrine and Metabolic Diseases Clinic currently has three patients suspected of having primordial dwarfism with a wide range of clinical abnormalities, which makes it difficult to accurately diagnose the disease based on clinical features due to the heterogeneity of diseases associated with bone abnormalities. Also, according to published articles on the patients in question, these individuals usually have other pathogenic mutations such as mutations in sex chromosomes (such as 47;XXY) or mutations in anemia-related genes such as G6PD, etc. Considering the above and suspecting primary dwarfism, we will perform NGS on probands to identify potential variants in genes related to skeletal disorders in Iranian patients. Also, after identifying disease-related mutations, the parents of the patients will also be sequenced using the Sanger method and their mutations will be reported. Investigating genetic mutations of primary dwarfism and reporting them, especially in Iranian society, where consanguineous marriages are common and research work in this field is very limited, has high scientific value and is also necessary to help control the disease and its possible integration into screening panels. Genetic evaluation can also lead to the identification of new or founder mutations in the Iranian population. Overall, by identifying mutations in Iranian patients, we can provide our population database. Introduce the above tests to the Ministry of Health for integration into the screening panel. Prevent inappropriate and ineffective treatments of patients, such as growth hormone injections. Increase basic knowledge about patients with primary dwarfism in Iranian society, as well as help control the disease, avoid inappropriate treatments, and remove the patient from the vicious cycle of paraclinical and clinical trials, and try to integrate this disease into screening panels.