Neurodevelopmental Disorder with Psychomotor Delay, Hearing Loss, and Spasticity Caused by Compound Heterozygous SPATA5L1 Variants-Expanding Phenotype
These videos have been matched automatically. Contact us if they are not relevant.
These videos have been matched automatically. Contact us if they are not relevant.
View abstract on PubMed
Summary
This summary is machine-generated.This case report details a new patient with SPATA5L1-related neurodevelopmental disorder, expanding the known spectrum of this rare condition. Early, comprehensive assessments are vital for diagnosing and managing this disorder effectively.
Area Of Science
- Genetics
- Neuroscience
- Developmental Biology
Background
- SPATA5L1-related neurodevelopmental disorder is rare, with an incompletely defined phenotype.
- Characterized by psychomotor delay, hearing loss, and motor dysfunction.
- Expanding clinical data is essential for early diagnosis and management.
Purpose Of The Study
- To report a case of SPATA5L1-related neurodevelopmental disorder.
- To characterize the clinical and neurodevelopmental phenotype.
- To emphasize the value of integrated diagnostic approaches.
Main Methods
- Detailed clinical case presentation of a 24-month-old female.
- Neuroimaging (Brain MRI) and neurodevelopmental assessments (Vojta).
- Genetic testing confirming compound heterozygous SPATA5L1 variants (c.1918C>T and c.2066G>T).
Main Results
- Patient presented with global psychomotor delay, hearing loss, strabismus, dysmorphism, and specific brain MRI findings.
- Vojta assessment revealed significant motor delay, abnormal reflexes, and persistent primitive reflexes.
- Genetic analysis confirmed pathogenic SPATA5L1 variants in trans.
Conclusions
- This case expands the clinical and neurodevelopmental spectrum of SPATA5L1 variants.
- Highlights the diagnostic utility of combining genomic sequencing with structured motor assessments.
- Suggests early, multidimensional evaluation improves recognition and management of rare neurodevelopmental disorders.
These videos have been matched automatically. Contact us if they are not relevant.
These videos have been matched automatically. Contact us if they are not relevant.
Related Concept Videos
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Autism spectrum disorder (ASD) is a neurodevelopmental condition marked by persistent deficits in social communication and interaction alongside restrictive and repetitive behaviors or interests. ASD is sometimes accompanied by intellectual impairment.
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Y chromosome mutations are called “Y-linked” and only affect males since they alone carry a copy of that chromosome. Mutations to the relatively small Y chromosome can impact male sexual function and secondary sex characteristics. Y-chromosome infertility is a disorder that affects...
Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Learning disabilities are cognitive disorders caused by neurological impairments that affect cognitive functions like language and reading, without indicating overall intellectual or developmental challenges. These disabilities differ from global intellectual or developmental disabilities as they are limited to distinct cognitive functions. Common learning disabilities include dysgraphia, dyslexia, and dyscalculia, each of which impacts unique aspects of learning.
Dyslexia
Dyslexia is a...
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...