autosomal recessive intellectual developmental disorder 44

Autosomal Recessive Intellectual Developmental Disorder 44 (MRD44) is a rare genetic condition characterized by below-average intellectual functioning, impairments in adaptive behavior, and distinctive physical features.

Key Features:

• Intellectual Disability: Individuals with MRD44 typically have significant cognitive impairment, affecting their ability to learn, reason, and adapt to new situations.
• Adaptive Behavior Impairment: People with this condition often struggle with everyday tasks, such as personal care, social interactions, and communication.
• Distinctive Facial Features: MRD44 is associated with a range of physical anomalies, including micrognathia (small jaw), facial asymmetry, and other characteristic facial features.
• Abnormalities of the Fingers: Some individuals with MRD44 may have abnormalities in their fingers, such as webbed or fused fingers.

Causes and Genetics:

MRD44 is caused by a homozygous mutation in the METTL23 gene on chromosome 17q25. This genetic mutation affects the production of a protein essential for normal brain development and function.

References:

• [8] Definition. An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25.
• [6] A number sign (#) is used with this entry because autosomal recessive intellectual developmental disorder-44 (MRT44) is caused by homozygous mutation in the METTL23 gene on chromosome 17q25.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 44:

• Mental retardation, mild (IQ range from 50 to 70) [6]
• Mildly delayed developmental milestones [6]
• No autistic features [6]

Additionally, early symptoms may include: * Poor muscle tone (hypotonia) * Delays in the development of motor skills like sitting, standing, and walking * Affected speech [4]

Please note that these symptoms are based on the information provided in the context and may not be an exhaustive list.

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder:

• Genetic testing: Genetic tests can identify mutations in specific genes associated with autosomal recessive intellectual developmental disorders. For example, testing for mutations in the ST3GAL3 gene (1p34.1) may be recommended [2].
• Chromosomal microarray: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, which may include autosomal recessive intellectual developmental disorders [3].
• Intellectual disability exome sequencing: This involves analysis of exome sequencing data in a predefined set of genes associated with non-syndromic intellectual disability, including autosomal recessive forms [7].
• G-banded karyotyping: Historically, G-banded karyotyping has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID, which may include autosomal recessive intellectual developmental disorders [8].

It's worth noting that any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually, and please contact the relevant service directly for cost and CPT information [4]. Additionally, diagnostic tests such as those mentioned in [5] and [9] may also be relevant.

References: [1] - Context 2 [2] - Context 2 [3] - Context 3 [4] - Context 4 [5] - Context 5 [7] - Context 7 [8] - Context 8 [9] - Context 9

Based on the provided context, it appears that there are limited resources available for the treatment of autosomal recessive intellectual developmental disorder 44 (MRT44). However, I can provide some general information on the topic.

Current Understanding

Autosomal recessive intellectual developmental disorders are a group of rare genetic conditions characterized by significant below-average general intellectual functioning associated with impairments in adaptive behavior. MRT44 is one such condition, but there is limited information available on its specific treatment options.

General Treatment Approaches

While there may not be specific treatments for MRT44, the following general approaches are often considered for individuals with autosomal recessive intellectual developmental disorders:

• Early Intervention: Early intervention and support services can help individuals with intellectual disabilities develop their skills and abilities to the fullest potential.
• Genetic Counseling: Genetic counseling can provide families with information on the genetic basis of the condition, recurrence risks, and reproductive options.
• Medical Management: Medical management may be necessary for associated medical conditions or complications.

Research and Development

There is ongoing research in the field of genetic therapies, which may hold promise for treating autosomal recessive intellectual developmental disorders. Genetic therapies can use viral vectors or nanoparticles to introduce, repair, or replace defective or missing genes [7].

However, it's essential to note that these approaches are still in the early stages of development and require further research before they can be considered as treatment options.

Conclusion

While there is limited information available on the specific treatment of autosomal recessive intellectual developmental disorder 44 (MRT44), general approaches such as early intervention, genetic counseling, and medical management may be considered. Ongoing research in genetic therapies holds promise for future treatment options.

References:

[7] Hou K. Genetic therapies: A new frontier in disease treatment. [2024]

Note: The references provided are based on the context information available and may not reflect the most up-to-date or comprehensive sources on the topic.

Autosomal Recessive Intellectual Developmental Disorder 44 (MRT44) is a condition characterized by below-average intellectual functioning, impairments in adaptive behavior, and other developmental delays [2]. When considering the differential diagnosis for MRT44, several conditions should be taken into account.

• Coffin-Siris Syndrome: This is a rare genetic disorder that affects physical and cognitive development. It is characterized by distinctive facial features, intellectual disability, and often, abnormalities in the hair and skin [10].
• Intellectual Disability: Intellectual disability can result from various causes, including genetic mutations, environmental factors, or a combination of both. The severity and impact on daily life vary widely among individuals [8].

Other conditions that may be considered in the differential diagnosis for MRT44 include:

• Developmental and Epileptic Encephalopathy-44 (DEE44): This is an autosomal recessive neurologic disorder characterized by refractory infantile spasms, developmental delays, and intellectual disability [4].
• Autosomal Recessive Deafness-Ochodystrophy Syndrome: This rare genetic condition affects hearing and skin development. It may be considered in the differential diagnosis for MRT44 due to overlapping symptoms [10].

A comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose and differentiate between these conditions.

References:

[1] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene. [2] - Intellectual developmental disorder, autosomal recessive 44 is a condition characterized by below-average intellectual functioning, impairments in adaptive ... [3] - INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 44; MRT44 · Clinical Features · Mapping · Molecular Genetics. [4] - Developmental and epileptic encephalopathy-44 (DEE44) is an autosomal recessive neurologic disorder characterized by the onset of refractory infantile ... [5] - DISEASE: Autosomal recessive intellectual developmental disorder ... causes mild autosomal recessive intellectual disability. ... J Med Genet 53:138-44 (2016) [6] - Autosomal recessive intellectual developmental disorder is a condition characterized by intellectual disability inherited in an autosomal recessive pattern. [7] - A number sign (#) is used with this entry because autosomal recessive intellectual developmental disorder-44 (MRT44) is caused by homozygous mutation in the ... [8] - In general, there is wide variation in the causes of ID: 18 – 44% of cases have exogenous causes (like teratogen exposure or infection) and 17 – 47% have ... [9] - by VK Chundru · 2024 · Cited by 1 — This study expands our understanding of the genetic architecture of developmental disorders across diverse genetically inferred ancestry groups ... [10] - Autosomal recessive deafness-onychodystrophy syndrome ... Differential diagnoses include Coffin-Siris syndrome, intellectual disability ... (44). Research