Novel mutation in the MED23 gene for intellectual disability: A case report and literature review
Feyzollah Hashemi-Gorji1, Majid Fardaei2, Seyed Mohammad Bagher Tabei2
1Genomic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran.
Clinical Case Reports
|March 9, 2019
Abstract:
MED23 deficiency causes the autosomal recessive Intellectual Disability (ID). Here we report an Iranian case with nonsyndromic ID presenting with developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity, who was homozygous for the novel MED23 c.670C>G variant. These results expand the clinical and mutation spectrum of MED23 deficiency.
Insights
MED23 deficiency causes intellectual disability (ID). A novel MED23 gene variant was identified in an Iranian patient with severe ID, expanding the known genetic causes of this condition.
Area of Science:
- Genetics
- Neuroscience
- Developmental Biology
Background:
- Intellectual Disability (ID) is a neurodevelopmental disorder.
- Autosomal recessive inheritance patterns are observed in some forms of ID.
- MED23 deficiency is a known cause of autosomal recessive ID.
Observation:
- A case of nonsyndromic ID in an Iranian individual is presented.
- The patient exhibited developmental delay, microcephaly, hypotonia, severe ID, speech delay, and spasticity.
- Genetic analysis revealed homozygosity for a novel MED23 c.670C>G variant.
Findings:
- The identified MED23 c.670C>G variant is associated with severe nonsyndromic ID.
- This finding confirms MED23 deficiency as a cause of autosomal recessive ID.
- The novel variant expands the known mutation spectrum for MED23 deficiency.
Implications:
- This report broadens the understanding of genetic factors contributing to ID.
- It highlights the importance of genetic diagnostics for MED23-related disorders.
- Further research into MED23 function may reveal new therapeutic targets for ID.
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