AMMECR1 rs1057519337: Understanding the AMME Complex Association
The AMMECR1 gene is located on the X chromosome and is primarily known for its role in the AMME complex, a rare contiguous gene deletion syndrome. This variant is associated with a collection of clinical features including midface hypoplasia, intellectual disability, and elliptocytosis.
What each genotype means
Associated with Alport syndrome
This genotype is associated with the clinical features of Alport syndrome, a condition affecting the kidneys, hearing, and eyes. Because this variant is located on the X chromosome, this genotype is most likely to manifest symptoms in males. Please consult with a medical professional or genetic counselor to discuss these findings in the context of your personal and family health history.
This specific genotype is rare in the general population.
Carrier of Alport syndrome mutation
This genotype indicates you are a carrier of a genetic variant associated with Alport syndrome. As an X-linked condition, mothers with this genotype are typically unaffected but have a 50% chance of passing the variant to their sons, who may then be at risk for the condition. Please discuss these results with a clinician or genetic counselor to understand the implications for your family planning and health.
This specific genotype is rare in the general population.
Typical genetic profile
This genotype represents the common or normal sequence at this position in the AMMECR1 gene. It is not associated with the increased risk for Alport syndrome linked to the variant alleles. No specific medical action is indicated based on this result.
This is the most common genotype observed in the general population.
What is the AMMECR1 Gene?
The AMMECR1 gene, which stands for Alport syndrome, Mental retardation, Midface hypoplasia, and Elliptocytosis Chromosomal Region gene 1, is located on the X chromosome at position Xq23. While the exact biological function of the protein encoded by this gene remains under investigation, it is recognized as a critical component in a specific contiguous gene deletion syndrome. This syndrome, known as the AMME complex, occurs when a submicroscopic deletion on the X chromosome removes not only AMMECR1 but also neighboring genes like COL4A5 and FACL4. Because these genes are located close together, they are often deleted or affected as a single unit, leading to a complex set of symptoms that affect multiple organ systems. Research into AMMECR1 has expanded beyond large deletions to include specific point mutations, which have helped scientists better understand how the disruption of this single gene contributes to developmental and physical health challenges.
Research and Clinical Associations
Scientific literature has established a strong link between the disruption of AMMECR1 and the AMME complex. The clinical presentation of this condition is variable but often includes midface hypoplasia, which refers to the underdevelopment of the bones in the middle of the face, and elliptocytosis, a condition where red blood cells are oval-shaped rather than round. Additionally, individuals with mutations or deletions in this region may experience early speech and language delays, infantile hypotonia, and hearing loss. While the gene was historically named for its proximity to the Alport syndrome locus, recent studies have clarified that isolated mutations in AMMECR1 can cause a distinct phenotype that overlaps with, but is clinically disparate from, classic Alport syndrome. The evidence for AMMECR1's role in these developmental and physical traits is considered moderate to strong, supported by both genetic sequencing of affected families and functional studies showing that mutant versions of the protein exhibit abnormal nuclear localization.
Understanding Your Results
If you have received information regarding an AMMECR1 variant, it is important to understand that this gene is associated with rare, complex, and often multi-systemic conditions. Genetic variants in this region are not common, and their presence does not automatically imply a diagnosis. Because the AMME complex involves multiple genes, clinical interpretation requires a comprehensive review by a medical geneticist or a qualified healthcare provider. You cannot use this information to self-diagnose or predict specific health outcomes. If you are concerned about symptoms such as hearing loss, developmental delays, or kidney-related issues, please consult with a clinician. They can provide appropriate testing, interpret the clinical significance of your specific genotype in the context of your family history, and guide you through any necessary medical management or genetic counseling.
How common is this variant?
The AMMECR1 variant is considered rare in the general population. Specific frequency data varies by ancestry, but it is not a common polymorphism found in the majority of individuals.
Frequently asked questions
Is AMMECR1 the same as Alport syndrome?
No, they are different. While AMMECR1 is located near the genes that cause Alport syndrome and was named for its association with a syndrome that includes Alport-like features, it is a distinct gene.
What is the AMME complex?
The AMME complex is a rare genetic condition caused by a deletion on the X chromosome. It stands for Alport syndrome, Mental retardation, Midface hypoplasia, and Elliptocytosis.
Should I be worried if I have an AMMECR1 variant?
Finding a variant does not mean you have a disease. You should discuss any genetic findings with a doctor or genetic counselor who can interpret the results based on your health history.
How is this variant tested?
This variant is typically identified through clinical exome or genome sequencing. It is not usually included in standard, direct-to-consumer wellness genetic tests.
Sources & further reading
Educational information only, last refreshed 10/16/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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