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Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel
Andrey V Marakhonov1,2,3, Fedor A Konovalov4, Amin Kh Makaov5
1Research Centre for Medical Genetics, Moscow, Russia. marakhonov@generesearch.ru.
Background:
Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome.
Case Presentation:
Clinical exome sequencing of the proband revealed a novel homozygous single nucleotide deletion in ASPM gene, c.1386delC, resulting in preterm termination codon. Population screening reveals allele frequency to be less than 0.005. Mutations in this gene were not previously associated with Seckel syndrome.
Conclusions:
Our case represents an additional support for the clinical continuum between Seckel Syndrome and primary microcephaly.
Insights
A novel ASPM gene mutation was identified in a patient initially diagnosed with Seckel syndrome. This finding supports a broader clinical spectrum for primary microcephaly and Seckel syndrome.
Area of Science:
- Genetics
- Neurology
- Developmental Biology
Background:
- Primary microcephaly is a heterogeneous neurological condition.
- Seckel syndrome is a rare genetic disorder characterized by severe microcephaly and other developmental issues.
Observation:
- A case of primary microcephaly was initially diagnosed as Seckel syndrome.
- Clinical exome sequencing identified a novel homozygous single nucleotide deletion (c.1386delC) in the ASPM gene.
Findings:
- The identified ASPM mutation leads to a preterm termination codon.
- This specific mutation has not been previously linked to Seckel syndrome.
- The allele frequency of this mutation is less than 0.005 in the population.
Implications:
- This case expands the known genetic causes of primary microcephaly.
- It provides further evidence for a clinical continuum between Seckel syndrome and primary microcephaly.
- Highlights the importance of genetic analysis in diagnosing complex developmental disorders.
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