autosomal recessive intellectual developmental disorder 7

Autosomal Recessive Intellectual Developmental Disorder 7 (MRT7) is a rare genetic condition characterized by below-average intellectual functioning and impairments in adaptive behavior [4]. It is caused by homozygous mutations in the TUSC3 gene, which plays a crucial role in brain development and function [2][3].

Individuals with MRT7 often experience severe intellectual disability, including impaired speech development, and may exhibit anxious autistic behavior [7]. They may also display primary microcephaly, which is a condition where the head circumference is smaller than average due to abnormal brain development.

The symptoms of MRT7 can vary in severity and may include:

• Severe intellectual disability
• Impaired speech development
• Anxious autistic behavior
• Primary microcephaly
• Dysmorphic features (abnormal physical characteristics)

It's essential to note that MRT7 is a rare condition, and the exact prevalence is unknown. However, it is considered an autosomal recessive disorder, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition [1][5].

References:

[1] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. [from MONDO] [2] - Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene. [3] - A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-7 (MRT7) is caused by homozygous mutations in the TUSC3 gene. [4] - Intellectual developmental disorder, autosomal recessive 7 is a condition characterized by below-average intellectual functioning and impairments in adaptive behavior. [5] - A number sign (#) is used with this entry because of evidence that autosomal recessive intellectual developmental disorder-7 (MRT7) is caused by homozygous mutations in the TUSC3 gene.

Based on the provided context, here are the signs and symptoms of autosomal recessive intellectual developmental disorder 7 (MRT7):

• Absent speech [1]
• Delayed ability to sit [1]
• Delayed ability to walk [1]
• Delayed speech and language development [1]
• Developmental regression [1]
• Global developmental delays [1]

Additionally, it is mentioned that MRT7 is caused by homozygous mutations in the LINS1 gene, which is associated with autosomal recessive non-syndromic intellectual disability [2].

It's worth noting that these symptoms can vary greatly from one individual to another, and may not be present in all cases of MRT7.

Based on the provided context, it appears that there are several diagnostic tests available for autosomal recessive intellectual developmental disorder 7 (MRT7). Here are some key points related to this topic:

• Genetic testing: Molecular diagnostic testing is available for conditions such as autosomal recessive intellectual developmental disorder-7 (MRT7), which is caused by homozygous mutations in the TUSC3 gene [4].
• Clinical Genetic Test: Intergen offers a Clinical Genetic Test for conditions including MRT7, which involves testing genes such as TUSC3 [2].
• Next-generation sequencing panel: A molecular diagnostic testing approach that includes next-generation sequencing panels can be used to detect mutations in the TUSC3 gene and other genes associated with congenital disorders of glycosylation (CDG) [3].

It's worth noting that genetic testing is a complex process, and the availability and accuracy of these tests may vary depending on various factors. If you're considering genetic testing for autosomal recessive intellectual developmental disorder 7 or any other condition, it's essential to consult with a qualified healthcare professional.

References:

[2] Clinical Genetic Test offered by Intergen for conditions (1): Intellectual disability, autosomal recessive 7; Testing genes (1): TUSC3 (8p22); ... [3] Molecular diagnostic testing for congenital disorders of glycosylation (CDG): detection rate for single gene testing and next generation sequencing panel ... [4] Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene.

Autosomal recessive intellectual developmental disorder 7 (MRT7) is a rare genetic condition that affects cognitive and intellectual development. While there are no specific treatments available to cure the condition, various interventions can help manage its symptoms.

Developmental and Educational Support

According to search result [3], developmental and educational support are essential for individuals with MRT7. This may include:

• Early intervention programs to address developmental delays
• Individualized education plans (IEPs) tailored to their specific needs
• Speech, occupational, and physical therapy to improve communication, fine motor skills, and gross motor skills

Feeding Therapy

Search result [3] also mentions feeding therapy as a potential treatment for MRT7. This may involve:

• Nutritional counseling to ensure adequate nutrition and hydration
• Feeding techniques and strategies to address any swallowing difficulties or food aversions

Genetic Counseling

As mentioned in search result [5], genetic counseling is crucial for individuals with MRT7 and their families. This can help them understand the condition, its inheritance pattern, and the risks of passing it on to future generations.

While these interventions can help manage the symptoms of MRT7, it's essential to note that there is currently no cure for this condition. Treatment aims to support the individual and improve their quality of life.

References:

[3] - Developmental and educational support [5] - Genetic counseling

Autosomal recessive intellectual developmental disorder 7 (MRD7) is a rare genetic condition characterized by severe intellectual disability, global developmental delay, and other associated features. When considering the differential diagnosis for MRD7, several conditions should be taken into account.

• DYRK1A syndrome: This condition shares similarities with MRD7, including microcephaly, intellectual disability, speech impairment, and distinct facies [9]. DYRK1A haploinsufficiency is a known cause of this syndrome.
• Autosomal dominant mental retardation-7 (MRD7): Although autosomal dominant, this condition presents with severe intellectual disability, feeding difficulties, behavior abnormalities, and other features that may be similar to MRD7 [7].
• Homozygous SLC6A17 mutations: These mutations cause autosomal-recessive intellectual disability with progressive tremor, speech impairment, and behavioral problems [6]. The clinical presentation of this condition may overlap with MRD7.
• Autosomal recessive coding variants: These variants are well-known causes of rare disorders and may contribute to the development of MRD7 in some cases [8].
• Intellectual disability and microcephaly: This combination is a common feature of several genetic conditions, including DYRK1A syndrome and autosomal dominant mental retardation-7.