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WES-Noncoding-Variant-Sample-Report-2022-Final.pdf
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🔗 Source: blueprintgenetics.com
📊 Size: 416 KB
👤 Author: Blueprint Genetics
⬇️ Downloads: 255

Summary

A 29-year-old patient with intellectual disability, anemia, 5-oxoprolinuria, and retinitis pigmentosa was found to be homozygous for the GSS c.129+1663A>G variant, which is pathogenic and associated with glutathione synthetase deficiency. The variant leads to the inclusion of a pseudoexon and has been reported in multiple individuals with the condition, characterized by hemolytic anemia, metabolic acidosis, and neurologic defects. The patient's mother is heterozygous for the variant, and the condition is inherited in an autosomal recessive pattern.

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A 29-year-old patient with intellectual disability, anemia, 5-oxoprolinuria, and retinitis pigmentosa was found to be homozygous for the GSS c.129+1663A>G...

Technical Information

  • File Format: PDF
  • File Size: 416 KB
  • Pages: 8
  • Language: EN
  • Author: Blueprint Genetics
  • Total Downloads: 255
  • Last Updated: 2 weeks ago

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