IDS rs113993955: Understanding Hunter Syndrome Carrier Status
The rs113993955 variant is a specific genetic alteration located within the IDS gene. It is recognized as a pathogenic mutation associated with carrier status for Mucopolysaccharidosis type II, also known as Hunter syndrome.
What each genotype means
Typical IDS gene sequence
This genotype represents the common, non-pathogenic sequence at this position in the IDS gene. It is considered the reference sequence and is not associated with Hunter syndrome.
This is the most common genotype observed in the general population.
Carrier of MPS II mutation
This genotype indicates the presence of a pathogenic mutation in the IDS gene associated with Mucopolysaccharidosis type II (Hunter syndrome). Because the IDS gene is located on the X chromosome, this status is particularly relevant for individuals who may pass the variant to offspring or, in the case of males who have only one X chromosome, may be affected by the condition. You should discuss these results with a genetic counselor or medical professional to understand the implications for your health and family planning.
This specific variant is rare in the general population.
Understanding the Variant and Its Location
The variant rs113993955 is a single nucleotide polymorphism (SNP) situated on the X chromosome at position 149,504,216 (GRCh38). It resides within the IDS gene, which is located at the Xq28 locus. Because this variant is located on the X chromosome, its inheritance and clinical expression are influenced by the unique way X-linked traits are passed down. In genetics, variants like rs113993955 are categorized based on their potential to disrupt normal biological function. This specific variant is classified as pathogenic, meaning it has been documented in clinical literature as a cause of disease when present in the appropriate genetic context.
The Role of the IDS Gene
The IDS gene provides the instructions for the body to produce an enzyme called iduronate-2-sulfatase. This enzyme is essential for the proper function of lysosomes, which are the recycling centers of the cell. Specifically, iduronate-2-sulfatase is responsible for breaking down complex sugar molecules known as glycosaminoglycans (GAGs), such as dermatan and heparan sulfate. When the IDS gene contains a pathogenic mutation, the body cannot produce enough functional enzyme. This leads to the accumulation of these sugar molecules within cells, which can cause progressive damage to various organ systems, including the heart, airways, and skeletal structure. This condition is known as Mucopolysaccharidosis type II, or Hunter syndrome.
Research and Clinical Associations
Research into Hunter syndrome has identified hundreds of unique mutations within the IDS gene. The variant rs113993955 is specifically noted in clinical databases, such as ClinVar, as a pathogenic mutation. Because Hunter syndrome is an X-linked recessive disorder, it primarily affects males, who have only one X chromosome. Females, who have two X chromosomes, are typically carriers if they possess one mutated copy of the gene. While carriers are usually asymptomatic, they may occasionally manifest symptoms due to skewed X-chromosome inactivation, a process where the cell preferentially uses the chromosome carrying the mutation. The evidence linking this variant to the disease is considered moderate to strong in clinical genetics, as it directly impacts the production of the necessary enzyme.
Population Frequency and Interpretation
The rs113993955 variant is considered rare in the general population. Because it is a pathogenic mutation associated with a specific metabolic disorder, it is not a common polymorphism found in the general public. Most individuals will carry the reference allele, which is associated with normal enzyme function. When interpreting genetic data, it is important to remember that the presence of a single variant does not constitute a diagnosis. Genetic testing results should always be reviewed by a qualified healthcare professional or a genetic counselor who can provide context based on an individual's full clinical history and family background.
What This Information Means for You
If you have received information regarding your status for rs113993955, it is essential to understand that this is a specialized finding. This variant is linked to carrier status for an X-linked condition. If you are concerned about your results or family history, the most appropriate step is to consult with a medical geneticist or a genetic counselor. They can help interpret what this means for your health and family planning. You cannot use this information to diagnose yourself or others, and it should not be used to make medical decisions without professional guidance. Always discuss any genetic findings with a clinician who can provide personalized medical advice.
How common is this variant?
The rs113993955 variant is rare across all major human populations, as it is a pathogenic mutation rather than a common genetic variation.
Frequently asked questions
What is Hunter syndrome?
Hunter syndrome, or Mucopolysaccharidosis type II, is a rare, X-linked genetic disorder caused by a deficiency of the enzyme iduronate-2-sulfatase. This leads to the buildup of complex sugars in the body, causing multisystem health issues.
Can females be affected by Hunter syndrome?
While Hunter syndrome is primarily seen in males, it can occur in females. This usually happens due to skewed X-chromosome inactivation, where the X chromosome with the functional gene is turned off, leaving the mutated gene active.
What does it mean to be a carrier?
Being a carrier means you have one copy of a mutated gene but typically do not show symptoms of the condition. However, you can pass this gene on to your children.
Should I be worried if I have this variant?
Finding a pathogenic variant can be concerning, but it is important to speak with a genetic counselor. They can explain the implications for your health and family planning based on your specific situation.
Sources & further reading
Educational information only, last refreshed 9/27/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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