autosomal recessive intellectual developmental disorder 61

Autosomal Recessive Intellectual Developmental Disorder 61 (MRD61)

MRD61, also known as MRT61, is a rare genetic disorder characterized by delayed psychomotor development and moderate to severe intellectual disability. The disorder is caused by an autosomal recessive mutation in the RUSC2 gene.

Key Features:

• Delayed psychomotor development [1]
• Moderate to severe intellectual disability [2][4][8]
• Global developmental delay apparent in infancy with mildly impaired intellectual development [5][6]
• Expressive speech delay and behavioral problems [6]

Causes and Genetics: MRD61 is caused by a homozygous mutation in the RUSC2 gene, which is inherited in an autosomal recessive pattern. This means that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder.

References:

• [1] MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development...
• [2] Nov 14, 2017 — MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development...
• [3] Disease Overview. An autosomal recessive non-syndromic intellectual disability that has material basis in an autosomal recessive mutation of the RUSC2 gene on...
• [4] MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and...
• [5] Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired...
• [6] MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral...
• [7] An autosomal recessive intellectual developmental disorder that has material basis in homozygous mutation in the RUN and SH3 domain containing 2 gene RUSC2...
• [8] MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability,...

Based on the available information, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 61 (MRT61):

• Impaired intellectual development [1]
• Absent speech [1]
• Poor sleep [1]

Additionally, some patients with MRT61 may experience:

• Global developmental delay [2]
• Macrocephaly with frontal bossing [2]
• High levels of anxiety [2]
• Seizures [3]

It's worth noting that the symptoms and signs of MRT61 can vary from person to person, and not all individuals with this condition will exhibit all of these characteristics.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 61, also known as Autosomal Recessive Non-Syndromic Intellectual Disability, is a rare genetic condition characterized by intellectual disability and normal physical appearance.

Diagnostic Tests:

Several diagnostic tests can be used to identify ARIDD 61. These include:

• Chromosomal Microarray Analysis: This test is recommended as a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies [4].
• Genetic Testing: Specific genetic testing can be ordered individually, including testing for the HNMT gene, which is associated with ARIDD 61 [6].
• Molecular Diagnostic Testing: Next-generation sequencing panels can also be used to detect mutations in genes associated with ARIDD 61 [9].

Other Tests:

While not specifically mentioned as diagnostic tests for ARIDD 61, other genetic and metabolic testing may be considered on a case-by-case basis. These include:

• Karyotype Analysis: This test can help identify chromosomal abnormalities that may contribute to intellectual disability.
• Metabolic Testing: This type of testing can help identify metabolic disorders that may cause intellectual disability.

References:

[1] Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 and its clinical features, APC2, available genetic tests ... [6] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene. [4] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. [9] Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel ...

Based on the provided context, it appears that there are limited resources available for drug treatment of autosomal recessive intellectual developmental disorder 61 (MRD61). However, I can provide some general information about potential therapeutic approaches.

Current Therapeutic Approaches

While specific treatments for MRD61 may not be well-established, research suggests that certain genetic therapies could potentially address the underlying causes of this condition. According to a study published in 2024 [10], genetic therapies using viral vectors or nanoparticles can introduce, repair, or replace defective genes, offering promise for treating various genetic disorders.

Potential Therapeutic Options

Some potential therapeutic options being explored for autosomal recessive intellectual developmental disorders include:

• Gene therapy: This involves introducing healthy copies of the affected gene into cells to compensate for the mutated gene [10].
• RNA-based therapies: These can be used to silence or modify the expression of disease-causing genes, potentially alleviating symptoms [10].

Important Considerations

It is essential to note that these potential therapeutic options are still in the early stages of research and development. As such, they may not yet be available for clinical use or may require further refinement before being considered as viable treatments.

References

[1] No relevant information found on specific drug treatment for MRD61. [10] Hou K (2024) Genetic therapies: A promising approach to treating genetic disorders [Context 10]

Please note that the above response is based solely on the provided context and may not reflect the most up-to-date or comprehensive information available. If you have any further questions or would like me to search for additional resources, please let me know!

The differential diagnosis for autosomal recessive intellectual developmental disorder 61 (MRD61) is extensive, given its syndromic characteristics. This condition shares similarities with other neurodevelopmental disorders, making it crucial to consider a wide range of possibilities when diagnosing MRD61.

Some conditions that may be part of the differential diagnosis include:

• Autosomal dominant intellectual developmental disorder: While MRD61 is autosomal recessive, its symptoms can overlap with those of autosomal dominant forms. Conditions like MRD61 should be considered in cases where there's a family history of intellectual disability.
• Other autosomal recessive neurodevelopmental disorders: Given the genetic basis of MRD61, other conditions caused by mutations in different genes might present similarly. These include disorders such as MRT61 (mentioned in search results 3 and 4), which also involves delayed psychomotor development and moderate to severe intellectual disability.
• Syndromic developmental delay/intellectual disability: The variable dysmorphic facial features associated with MRD61 can make it challenging to distinguish from other syndromes. Conditions like Down syndrome, Fragile X syndrome, or other chromosomal abnormalities might be considered in the differential diagnosis.

Prenatal diagnosis is possible for MRD61 when the pathogenic variant has been identified in a family member. However, given the complexity of genetic testing and the variability in symptoms among affected individuals, a comprehensive diagnostic workup is essential to accurately diagnose MRD61 (search result 8).

It's also worth noting that intellectual developmental disorder, formerly known as Mental retardation (MR), is a broader category that encompasses various conditions, including autosomal recessive forms like MRD61. The KEGG DISEASE database defines intellectual developmental disorder as a condition characterized by intellectual disability inherited in an autosomal dominant or recessive pattern (search result 9).

In summary, the differential diagnosis for autosomal recessive intellectual developmental disorder 61 is complex and involves considering a range of neurodevelopmental disorders with overlapping symptoms. A thorough diagnostic workup, including genetic testing when possible, is essential to accurately diagnose MRD61.

References: * Search result 8: The syndrome has an extensive differential diagnosis in the context of syndromic DD/ID. Prenatal diagnosis is possible where the pathogenic variant has been identified. * Search result 9: KEGG DISEASE: Autosomal dominant intellectual developmental disorder. Intellectual developmental disorder, formerly known as Mental retardation (MR), is a condition characterized by intellectual disability inherited in an autosomal dominant or recessive pattern.