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The secret of the SHANK3 gene: Why is it so critical?
In the research of genetic medicine, 22q13 deletion syndrome, also known as Phelan-McDermid syndrome, has become the focus of research because of its close relationship with the SHANK3 gene. The SHANK3 gene is located in the q13 region on the long arm of chromosome 22, and its mutations are closely related to a variety of neurodevelopmental diseases, including autism spectrum disorder (ASD) and schizophrenia. This makes the SHANK3 gene a key factor that cannot be ignored. What role it plays in these diseases is still a topic that many scientists are exploring.
According to the latest findings, about 97% of patients with 22q13 deletion syndrome have usually 30 to 190 genes involved, and the SHANK3 gene is only one of them.
Symptoms and signs
Individuals affected by 22q13 deletions often display a wide range of medical and behavioral characteristics, including global developmental delay, intellectual disability, language abnormalities, and autistic-like behaviors. Specifically, many patients develop hypotonia and mild dysmorphic features.
According to current research, early symptom recognition is critical for early diagnosis and intervention.
Cause analysis
The cause of 22q13 deletion syndrome is mainly due to varying degrees of deletions in the q13 region of chromosome 22. Most of these deletions are new mutations, and 75% of the cases are paternal mutations. Variations in these genes can lead to diverse clinical manifestations, making diagnosis more complex.
Mutations and deletions of the SHANK3 gene can mimic 22q13 deletion syndrome in some cases, but their effects are highly variable.
Diagnosis and Management
Genetic testing required to confirm the diagnosis of 22q13 deletion syndrome is a crucial step. Clinically, genomic microarray testing is the tool of choice for identifying the majority of cases. However, small-scale variants may be overlooked, so the reduced cost of whole-exome sequencing may replace traditional testing methods.
Comprehensive assessment
All patients should receive a comprehensive developmental and behavioral evaluation. Based on the assessment results, targeted speech, occupational and physical therapy will help improve the patient's quality of life.
Medical Management
Because of the relatively high incidence of neurological problems such as epilepsy in these patients, regular examination of neurological development and motor coordination is necessary. Structural magnetic resonance imaging is performed to rule out potential structural abnormalities.
According to the literature, about 41% of patients will experience epileptic seizures, which has a pessimistic impact on development.
Epidemiological research
There is currently no specific data on the true incidence of PMS, but according to statistics from the Phelan-McDermid Foundation, more than 1,200 people worldwide have been diagnosed with this syndrome. It is important to note that this condition may be underestimated due to insufficient genetic testing.
Historical review
The first case of Phelan-McDermid syndrome was described in 1985, in which a 14-year-old boy showed features of severe intellectual disability due to a terminal deletion of chromosome 22. Subsequently, relevant studies have successively revealed the importance of the SHANK3 gene and its close association with the syndrome.
Research on the SHANK3 gene not only broadens our understanding of 22q13 deletion syndrome, but also enhances the scientific community's understanding of neurodevelopmental disorders.
In future research, we need to further explore the possible role of the SHANK3 gene in other neuropsychiatric diseases, and how to more effectively manage and treat patients affected by this gene. Perhaps this will bring benefits to the treatment of related diseases. New hopes and methods. After all, how does the SHANK3 gene affect the development of the entire nervous system?
