ARSE rs80338710: Understanding X-linked Chondrodysplasia Punctata 1
The rs80338710 variant is a specific genetic change located within the ARSE gene. It is clinically associated with X-linked recessive chondrodysplasia punctata 1, a rare condition that affects bone development and can involve ocular abnormalities like cataracts.
What each genotype means
Typical ARSE gene profile
This is the reference genotype for the ARSE gene at this location. It is considered the standard sequence and is not associated with the development of X-linked recessive chondrodysplasia punctata 1.
This is the most common genotype found in the general population.
Pathogenic variant detected
This genotype is classified as pathogenic and is linked to X-linked recessive chondrodysplasia punctata 1, a condition that can affect skeletal development and vision. Because this gene is located on the X chromosome, the clinical impact depends on your sex and the presence of other functional copies of the gene. Please consult with a medical geneticist or your healthcare provider to discuss these findings in the context of your personal and family health history.
This specific genotype is rare in the general population.
Carrier status
This genotype indicates you carry one copy of the pathogenic variant and one reference copy of the ARSE gene. In X-linked recessive conditions, individuals with one functional copy may not show symptoms or may have a milder presentation, though this can vary significantly. You should discuss the implications of this result with a genetic counselor or physician.
This heterozygous genotype is rare in the general population.
What is rs80338710 and where is it located?
The variant rs80338710 is a single nucleotide polymorphism (SNP) found within the ARSE gene, which is situated on the short arm of the X chromosome (Xp22.3). In the human genome, this specific position is identified by its coordinate on the X chromosome. Because this variant is located on the X chromosome, its inheritance pattern is X-linked. This means that males, who have only one X chromosome, are typically more affected by pathogenic variants in this gene than females, who have two X chromosomes and may be carriers. The variant is cataloged in major genetic databases, including ClinVar and dbSNP, as a point of interest for researchers studying skeletal and developmental disorders.
The Role of the ARSE Gene
The ARSE gene provides instructions for producing an enzyme called arylsulfatase E. This enzyme is primarily located in the Golgi apparatus of cells, where it plays a critical role in the modification of sulfated molecules. These molecules are essential for the proper development of cartilage and bone. When the ARSE gene is mutated, the resulting deficiency in arylsulfatase E can disrupt normal skeletal formation, leading to the characteristic stippling (calcification spots) seen on X-rays in individuals with chondrodysplasia punctata. Beyond bone development, the gene's function is also linked to other developmental processes, which explains why individuals with related mutations may experience a range of symptoms, including distinct facial features, skin changes, and ocular issues such as cataracts.
Research and Clinical Associations
Research has established a strong link between mutations in the ARSE gene and X-linked recessive chondrodysplasia punctata 1 (CDPX1). Clinical studies have identified various mutations within this gene that lead to the loss of arylsulfatase E activity. The evidence for this association is considered robust in the context of clinical genetics, as identified by its presence in databases like ClinVar. However, it is important to note that not all cases of chondrodysplasia punctata are caused by ARSE mutations; approximately 40 to 50 percent of patients with a clinical diagnosis of brachytelephalangic chondrodysplasia punctata do not have detectable mutations in this gene. This suggests that other genetic factors or environmental influences may contribute to the condition, highlighting the complexity of diagnosing and understanding these rare skeletal disorders.
Population Frequency and Interpretation
The rs80338710 variant is classified as rare in the general population. Because it is associated with a rare genetic disorder, it is not commonly found in large-scale population studies of healthy individuals. Genetic variants that cause rare, severe developmental conditions are typically maintained at very low frequencies due to natural selection. If you have received information about this variant through genetic testing, it is essential to understand that such results are highly specific. This information should not be used for self-diagnosis. If you have concerns about your genetic health or family history, you should consult with a qualified genetic counselor or a medical professional who can provide context based on your personal clinical presentation and family history.
How common is this variant?
The rs80338710 variant is considered rare across all major ancestral populations, consistent with its association with a rare genetic disorder.
Frequently asked questions
What is X-linked recessive chondrodysplasia punctata 1?
It is a rare genetic disorder that affects bone and cartilage development, often characterized by stippling on X-rays. It can also cause other symptoms, including hearing loss, skin abnormalities, and cataracts.
Can I use this information to diagnose myself?
No. Genetic variants must be interpreted by a medical professional in the context of your physical symptoms, family history, and clinical testing. Never use genetic data for self-diagnosis.
Is this variant common?
No, this variant is rare. It is not a common polymorphism found in the general healthy population.
What should I do if I have this variant?
If you have concerns about a genetic report, you should schedule an appointment with a genetic counselor or a medical geneticist. They can help you understand what the result means for your health.
Sources & further reading
Educational information only, last refreshed 9/20/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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