Microdeletion of 4p16.2 in Children: A Case Report and Literature Review
Yanjie Qian1, Xiaoying Wang1,2, Wei Tang1
1Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine, Hangzhou, China.
Insights
A microdeletion at 4p16.2 in a child with developmental delay was identified. This genetic finding may link 4p16.2 copy number variations (CNV) to motor and intellectual disabilities.
Area of Science:
- Genetics
- Developmental Biology
- Medical Genetics
Background:
- Copy number variations (CNV) are recognized as significant contributors to human diseases, encompassing congenital anomalies, psychiatric disorders, and intellectual disabilities.
- Understanding the genetic basis of developmental delays is crucial for diagnosis and intervention.
Observation:
- A one-year-old boy presented with significant developmental delay, including motor delay and mental retardation.
- Clinical features included a high birth weight (4.5 kg), mild hypertonia, and specific dysmorphic features (e.g., frontal bossing, hypertelorism, epicanthus).
- Brain MRI revealed abnormalities, and standardized developmental assessments indicated a low developmental quotient (50) and impaired gross motor function.
Findings:
- Chromosomal microarray analysis detected an approximately 97 kb microdeletion at 4p16.2.
- This microdeletion encompassed portions of the EVC and EVC2 genes, which are associated with Ellis-van Creveld syndrome (EvC) and Weyers acrofacial dysostosis (WAD).
Implications:
- The identified 4p16.2 microdeletion suggests a potential association with a spectrum of developmental abnormalities.
- This case highlights the role of specific microdeletions in complex developmental disorders, including motor delay and intellectual disability.
- Further research into 4p16.2 CNVs may elucidate their broader impact on neurodevelopment and congenital conditions.
Abstract:
Copy number variations (CNV) are thought to play an important role in causing human diseases, including congenital anomalies, psychiatric disorders, and intellectual disabilities. We report here a one-year-old boy presented to our clinic as developmental delay. He presented a birth weight of 4.5 kg, motor delay, mental retardation, mild hypertonia, and some dysmorphic features (mild frontal bossing, hypertelorism, epicanthus, concave nasal ridge, slightly sparse hair, short hands, and mild nail dysplasia). The brain MRI indicated brain abnormalities; the Gross Motor Function Measure-66 score was 23.37; the Gesell test result showed the development quotient was 50, suggesting mental retardation. Chromosomal microarray analysis showed an approximately 97 kb microdeletion at 4p16.2 (4p16.2 CNV), including part of EVC and EVC2 genes, which were associated with Ellis-van Creveld syndrome (EvC) and Weyers acrofacial dysostosis (WAD). This report suggests 4p16.2 microdeletion may be associated with multiple developmental abnormalities, including motor delay and mental retardation.
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