AI Article Synopsis
- Carbonic anhydrase 5A (CA5A) is a zinc enzyme that helps convert CO to bicarbonate and is linked to a rare metabolic disorder called Carbonic anhydrase 5A deficiency (CA5AD).
- Mutations in CA5A can lead to severe symptoms like acute encephalopathy in infants, and CA5A has two similar pseudogenes that may complicate genetic testing.
- The report discusses a case of CA5AD resulting from specific genetic variants in an infant, highlighting the importance of understanding pseudogenes in genetic analysis.
Article Abstract
Carbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO to bicarbonate. Mutations in CA5A are very rare and known to cause Carbonic anhydrase 5A deficiency (CA5AD), an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. CA5A also has two very identical pseudogenes whose interference may result in compromised accuracy in targeted sequencing. We report a unique case of CA5AD caused by compound heterozygous variant (NM_001739.2: c.721G>A: p.Glu241Lys & NM_001739.2: c.619-3420_c.774 + 502del4078bp) in an infant in order to expand the phenotypic spectrum and underscore the impact of pseudogenes, which can introduce complexities in molecular genetic analysis.
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| http://dx.doi.org/10.1002/ajmg.a.63809 | DOI Listing |
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