Yuan-Harel-Lupski syndrome, also known as Potocki-Lupski syndrome, is a rare genetic disorder caused by duplications in a specific region of chromosome 17. This syndrome is named after the three scientists who first identified and described it: Dr. Claudia M. B. Carvalho, Dr. Pawel Stankiewicz, and Dr. Sau Wai Cheung.
Individuals with Yuan-Harel-Lupski syndrome have an extra copy of a certain gene in the chromosome 17 region. This gene, called SHANK3, is associated with various differences and symptoms in affected individuals. People with this syndrome typically have intellectual disability, developmental delay, and craniofacial differences, such as a prominent forehead and low-set ears.
In addition to cognitive and physical symptoms, individuals with Yuan-Harel-Lupski syndrome may also experience difficulties with feeding and have more frequent infections, as the duplication affects genes involved in the development of the peripheral nervous system and the immune system. The inheritance pattern of this syndrome is complex and can vary between individuals.
Further research is needed to fully understand the causes and mechanisms of Yuan-Harel-Lupski syndrome. However, ongoing studies on the chromosome 17 region associated with this condition provide valuable insights into the genetic factors involved in its development. Understanding the underlying genes and their functions is crucial for developing targeted therapies and improving the quality of life for individuals with this syndrome.
Frequency
The Yuan-Harel-Lupski syndrome is a rare genetic disorder that is characterized by intellectual disability and other developmental abnormalities. The syndrome is caused by duplications of a specific region on chromosome 17, known as the Potocki-Lupski syndrome critical region. These duplications lead to an overexpression of certain genes in this region, which is believed to be responsible for the symptoms associated with the syndrome.
The frequency of the Yuan-Harel-Lupski syndrome is currently unknown. It is estimated to affect a very small number of people worldwide. Due to its rarity, there is limited information available about the prevalence of the syndrome in different populations or regions.
Research on the syndrome is ongoing, and studies are being conducted to learn more about its frequency and inheritance patterns. It is believed that the syndrome may be inherited in an autosomal dominant manner, meaning that having just one copy of the causative genes is enough to develop the syndrome. However, further research is needed to confirm this.
It is important to note that the Yuan-Harel-Lupski syndrome has overlapping features with other genetic disorders, such as Potocki-Lupski syndrome and Duplication 17p11.2 syndrome. These disorders also involve duplications of the same region on chromosome 17 and share similar symptoms, including intellectual disability and craniofacial differences.
Feeding difficulties are also commonly associated with the Yuan-Harel-Lupski syndrome. Many individuals with the syndrome require tube feeding or specialized feeding techniques to meet their nutritional needs.
In summary, the frequency of the Yuan-Harel-Lupski syndrome is currently unknown due to its rarity. Further research is needed to determine the exact prevalence of the syndrome and to better understand its inheritance patterns and associated symptoms.
Causes
The Yuan-Harel-Lupski syndrome is caused by a duplication of a specific region on chromosome 17. This region is also known as the Potocki-Lupski region, named after the two researchers who discovered it.
People with Yuan-Harel-Lupski syndrome have an extra copy of these genes in the duplicated region, which causes the symptoms of the syndrome. The exact genes in this region and how they contribute to the condition are still being studied.
This duplication is typically inherited from one of the parents, who may or may not show symptoms of the syndrome themselves. In some cases, the duplication may occur randomly and not be inherited from either parent.
The extra copies of the genes in the duplicated region can lead to various differences and symptoms. Some of the common symptoms associated with Yuan-Harel-Lupski syndrome include developmental delays, intellectual disability, feeding difficulties, and craniofacial abnormalities.
Research on the genes in this region and their functions is ongoing, as scientists seek to better understand the specific mechanisms and pathways that are affected by the duplication. This knowledge can help provide more targeted treatments and interventions for individuals with Yuan-Harel-Lupski syndrome.
It is important to note that Yuan-Harel-Lupski syndrome and Potocki-Lupski syndrome are two names for the same condition, reflecting different researchers who studied and described the syndrome. The symptoms and underlying genetic cause are the same.
Learn more about the genes and chromosome associated with Yuan-Harel-Lupski syndrome
Yuan-Harel-Lupski syndrome is a rare genetic condition caused by duplications in a specific region of chromosome 17. This region contains a cluster of genes, including the PMP22 gene, which is responsible for producing a protein involved in the maintenance of peripheral nerves. When there are extra copies of this region, it leads to an overproduction of the protein and the development of the syndrome.
People with Yuan-Harel-Lupski syndrome may experience a range of symptoms and differences. Some of the most common features include intellectual disability, delayed development, craniofacial abnormalities, and feeding difficulties. Additionally, individuals with this condition may have reduced muscle tone and sensory impairments.
Yuan-Harel-Lupski syndrome is similar to another condition called Potocki-Lupski syndrome, which is caused by deletions in the same region of chromosome 17. The two conditions have overlapping symptoms, but the genetic changes involved are opposite.
The frequency of Yuan-Harel-Lupski syndrome is not well-established, but it is believed to be a rare condition. It is thought to be inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.
Understanding the genes and chromosome associated with Yuan-Harel-Lupski syndrome provides valuable insights into the causes and symptoms of the condition. Researchers continue to investigate the specific mechanisms by which the extra copies of the PMP22 gene lead to the characteristic features of the syndrome. This knowledge may ultimately contribute to the development of targeted treatments for individuals affected by the condition.
Inheritance
Inheritance of Yuan-Harel-Lupski syndrome (YHS) is autosomal dominant. This means that the condition can be passed down from one generation to the next in a family. Individuals with inherited YHS have a 50% chance of passing the condition on to each of their children.
YHS is associated with duplications of specific genes in the chromosome 17p11.2 region. The most common causes of YHS are duplications in the PMP22 gene, which is also associated with another condition called Charcot-Marie-Tooth disease type 1A (CMT1A).
While the exact frequency of YHS is unknown, it is considered rare. It has been estimated to occur in 1 in 20,000 to 1 in 90,000 individuals.
People with YHS typically have intellectual disability, developmental delays, and craniofacial differences. They may also experience feeding difficulties and have other medical conditions associated with YHS, such as heart defects or hearing loss.
YHS has overlapping features with another condition called Potocki-Lupski syndrome (PTLS), which is caused by deletions in the same chromosome 17p11.2 region. Some individuals with YHS may have both duplications and deletions in this region, resulting in complex genomic rearrangements.
Learning more about the genes involved in YHS and the mechanisms by which these duplications lead to the condition can provide insights into the underlying causes and potential therapeutic targets for YHS and related disorders.
Other Names for This Condition
Yuan-Harel-Lupski syndrome, also known as Potocki-Lupski syndrome, is a rare genetic disorder characterized by intellectual disability and developmental delay. It is associated with duplications in the 17p11.2 region of chromosome 17.
Some other names for this condition include:
- Potocki-Lupski syndrome
- 17p11.2 duplication syndrome
- Duplication 17p11.2 syndrome
- Trisomy 17p11.2 syndrome
These names reflect the different aspects of the syndrome and provide more information about its causes and associated symptoms.
The inheritance of Yuan-Harel-Lupski syndrome is considered to be autosomal dominant, which means that having a duplication in the 17p11.2 region of chromosome 17 increases the likelihood of a person developing the syndrome. However, not all individuals with the duplication will have the full spectrum of symptoms associated with the syndrome.
Some of the key features of Yuan-Harel-Lupski syndrome include intellectual disability, developmental delay, craniofacial differences, feeding difficulties, and peripheral neuropathy. People with this condition may also have learning disabilities, behavioral issues, and other medical problems.
It is important for individuals with Yuan-Harel-Lupski syndrome and their families to learn more about this condition and its management. Genetic counseling and support groups can provide valuable information and resources for those affected by the syndrome.
The frequency of Yuan-Harel-Lupski syndrome is currently unknown, but it is considered to be a rare disorder. The specific genes involved in the duplication on chromosome 17 are still being studied, and further research is needed to better understand the underlying mechanisms and potential treatment options for this condition.