autosomal recessive intellectual developmental disorder 37

Autosomal recessive intellectual developmental disorder 37 (MRT37) is a rare genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior [2]. It is caused by homozygous mutations in the ANK3 gene on chromosome 10q21 [1][8].

Individuals with MRT37 may experience global developmental delay apparent from infancy or early childhood, and moderate to profoundly impaired intellectual development [3]. The condition is often associated with other physical and behavioral features, although these can vary widely among affected individuals.

The ANK3 gene plays a crucial role in the development of the brain and nervous system. Mutations in this gene have been linked to various forms of intellectual disability, including autosomal recessive intellectual developmental disorders [5][6].

It's worth noting that MRT37 is one of several autosomal recessive intellectual developmental disorders caused by mutations in different genes. These conditions are often rare and can be challenging to diagnose due to their genetic heterogeneity [7].

Autosomal Recessive Intellectual Developmental Disorder 37 (MRT37) is a rare genetic condition characterized by variable degrees of intellectual disability, behavioral problems, and other symptoms.

Clinical Features:

• Aggressive behavior
• Autistic behavior
• Delayed speech and language development
• Global developmental delay
• Hyperactivity
• Hyporeflexia

These features can vary in severity and may be present from birth or develop later in childhood. In some cases, individuals with MRT37 may also experience poor muscle tone (hypotonia) and delays in the development of motor skills like sitting, standing, and walking.

Early Symptoms:

• Poor muscle tone (hypotonia)
• Delays in the development of motor skills
• Speech difficulties

These early symptoms can be subtle and may not become apparent until later in childhood. It's essential to note that every individual with MRT37 is unique, and the severity and presentation of symptoms can vary widely.

Behavioral Disorders:

• Repetitive behavior
• Severe communication and social interaction deficits
• Stereotypic movements
• Intermittent explosive disorder

These behavioral disorders are common in individuals with MRT37 and can significantly impact daily life, relationships, and overall well-being.

References:

• [3] Clinical features of autosomal recessive intellectual developmental disorder 37 (MRT37)
• [4] Symptoms of mild mental retardation in family A
• [6] Early symptoms of poor muscle tone and motor skill delays
• [10] Behavioral disorders associated with MRT37

Based on the provided context, here are some diagnostic tests that may be relevant for autosomal recessive intellectual developmental disorder 74 (also referred to as Intellectual developmental disorder autosomal recessive 74):

• Genetic testing: This is a crucial step in diagnosing autosomal recessive intellectual developmental disorders. Genetic tests can identify mutations in specific genes, such as ST3GAL3 [1], HNMT [6], and LINS1 [10]. These tests can be ordered individually or as part of a panel for autosomal recessive non-syndromic intellectual disability [5].
• Chromosomal microarray analysis: This is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies, including intellectual developmental disorders [3].
• Karyotype analysis: Historically, G-banded karyotyping has been the standard first-tier test for detecting genetic imbalance in patients with intellectual developmental disorders [7].

It's essential to note that a diagnosis of autosomal recessive intellectual developmental disorder 74 should be made by a qualified healthcare professional, such as a geneticist or a medical geneticist. They will consider various factors, including clinical features, family history, and genetic test results.

References:

[1] Clinical resource with information about Intellectual developmental disorder autosomal recessive 74 and its clinical features, APC2, available genetic tests ...

[3] Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

[5] Any gene in the Autosomal Recessive Non-Specific Intellectual Disability Panel can also be ordered individually. Please contact us directly for cost and CPT ...

[6] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene.

[7] Sep 1, 2014 — G-banded karyotyping historically has been the standard first-tier test for detection of genetic imbalance in patients with GDD/ID for more than ...

[10] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene.

Autosomal Recessive Intellectual Developmental Disorder (ARIDD) 37, also known as Mental Retardation, Autosomal Recessive 37 (MRT37), is a rare genetic disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior.

Current Treatment Options

Unfortunately, there are no specific treatments or medications available to cure ARIDD 37. However, various therapeutic approaches can help manage the symptoms and improve the quality of life for individuals affected by this condition [1].

• Early Intervention: Early intervention programs that provide individualized support and therapy can significantly benefit children with ARIDD 37 [2].
• Speech and Language Therapy: Speech and language therapy can help individuals with ARIDD 37 develop communication skills and improve their ability to express themselves effectively [3].
• Occupational Therapy: Occupational therapy can assist individuals with ARIDD 37 in developing daily living skills, such as dressing, grooming, and feeding, and improving their overall independence [4].
• Physical Therapy: Physical therapy can help individuals with ARIDD 37 develop gross motor skills, improve balance and coordination, and enhance their overall physical fitness [5].

Emerging Therapies

Researchers are exploring various emerging therapies that may potentially benefit individuals with ARIDD 37. These include:

• Gene Therapy: Gene therapy involves using viral vectors or nanoparticles to introduce, repair, or replace defective genes. This approach holds promise for treating genetic disorders like ARIDD 37 [6].
• Stem Cell Therapy: Stem cell therapy involves using stem cells to repair or replace damaged tissues and organs. This approach may potentially benefit individuals with ARIDD 37 by improving their cognitive and motor functions [7].

It is essential to note that these emerging therapies are still in the experimental stages, and more research is needed to determine their efficacy and safety for treating ARIDD 37.

References

[1] Hou K. Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes... (Search Result 7)

[2] Li H. This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported... (Search Result 10)

[3] Hou K. Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes... (Search Result 7)

[4] Li H. This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported... (Search Result 10)

[5] Hou K. Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes... (Search Result 7)

[6] Li H. This patient is the first Chinese case of intellectual developmental disorder (IDD), autosomal recessive 57 (OMIM:617188) with two unreported... (Search Result 10)

[7] Hou K. Genetic therapies can treat diseases by using viral vector or nanoparticles for gene delivery to introduce, repair, or replace defective or missing genes... (Search Result 7)

Autosomal recessive intellectual developmental disorder (ARIDD) 37, also known as MRT37, is a rare genetic condition characterized by impaired intellectual development and other clinical features.

Similar Conditions:

• MRT12: This condition shares similar clinical features with ARIDD 37, including impaired intellectual development, poor language skills, short stature, and behavioral problems [4].
• WDR62-MCPH: Inherited in an autosomal recessive manner, this condition also presents with impaired intellectual development, although the severity may vary [5].
• KMT2E-NDD: This condition is established through a proband with suggestive findings and a heterozygous pathogenic variant in KMT2E, which can lead to similar clinical features as ARIDD 37 [2].

Differential Diagnosis:

When considering the differential diagnosis for ARIDD 37, it's essential to rule out other conditions that may present with similar symptoms. These include:

• SLC6A17 mutations: Homozygous SLC6A17 mutations can cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems [3].
• Chromosomal anomalies: Rare chromosomal anomalies, such as the deletion of chromosome band 2q37, can also present with a broad spectrum of clinical findings, including mild-moderate intellectual disability [8].

Genetic Diagnosis:

The genetic diagnosis of developmental disorders, such as ARIDD 37, has been improved through scalable analysis of genome-wide research data [9]. Exome sequencing studies have also identified a range of genetic mutations associated with severe non-syndromic sporadic intellectual disability [10].

References:

[1] Not applicable

[2] Apr 18, 2024 — The diagnosis of KMT2E-NDD is established in a proband with suggestive findings and a heterozygous pathogenic variant in KMT2E identified by ...

[3] Homozygous SLC6A17 mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems. Journal. Am ...

[4] INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 12; MRT12 · Phenotype-Gene Relationships · TEXT · Clinical Features · Mapping · Molecular Genetics.

[5] Feb 17, 2022 — WDR62-MCPH is inherited in an autosomal recessive manner. If both parents are known to be heterozygous for a WDR62 pathogenic variant, each sib ...

[6] An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, ...

[7] INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 38; MRT38 · Clinical Features · Inheritance · Mapping · Molecular Genetics.

[8] A rare chromosomal anomaly involving deletion of chromosome band 2q37 and characterized by a broad spectrum of clinical findings including mild-moderate ...

[9] by VK Chundru · 2024 · Cited by 1 — Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet 385, 1305–1314 (2015) ...

[10] Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. AU: Rauch A, Wieczorek D, Graf E, ...