A Novel Mutation in ERCC8 Gene Causing Cockayne Syndrome
Maryam Taghdiri1,2, Hassan Dastsooz2, Majid Fardaei2,3,4
1Genetic Counseling Center, Shiraz Welfare Organization, Shiraz, Iran.
Frontiers in Pediatrics
|August 30, 2017
Summary
This study identifies a novel ERCC8 gene mutation in a patient with Cockayne syndrome, a rare genetic disorder. This discovery aids in genetic counseling and prenatal diagnosis for affected families.
Area of Science:
- Genetics
- Molecular Biology
- Medical Science
Background:
- Cockayne syndrome (CS) is a rare, autosomal recessive disorder affecting neurological and sensory functions, growth, and causing photosensitivity.
- Diagnosis is crucial due to the progressive nature and variable severity of CS, often requiring genetic confirmation.
- Mutation analysis of CS-associated genes aids in confirming clinical diagnoses.
Observation:
- A 16-year-old boy presented with poor weight gain, short stature, microcephaly, intellectual disability, and photosensitivity.
- Whole exome sequencing identified a novel homozygous mutation (c.1122G>C) in the ERCC8 gene.
- No pathogenic mutations were found in the ERCC6 gene.
Findings:
- A novel homozygous mutation in the ERCC8 gene was identified in the patient using next-generation sequencing.
- Sanger sequencing confirmed the mutation's co-segregation with the disease in the family.
- Bioinformatics tools predicted the pathogenicity of the novel ERCC8 mutation.
Implications:
- This finding contributes to understanding Cockayne syndrome pathogenesis.
- Accurate genetic counseling and prenatal diagnosis can be provided to families with CS.
- Minimizing the incidence of new affected individuals in this family is a key outcome.
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