A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion

Author:

Mathew Rohan Peter12,Ranya Raghavendra Prashanth3,Disha Biradar14,Dalal Ashwin1,Govindaraj Periyasamy15ORCID

Affiliation:

1. BRIC‐Centre for DNA Fingerprinting and Diagnostics Hyderabad India

2. Manipal Academy of Higher Education Manipal India

3. KEM Hospital Mumbai India

4. Regional Centre for Biotechnology Faridabad India

5. Department of Neuropathology National Institute of Mental Health and Neurosciences (NIMHANS) Bengaluru India

Abstract

AbstractCarbonic anhydrase 5A (CA5A) belongs to a family of carbonic anhydrases which are zinc metalloenzymes involved in the reversible hydration of CO2 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.

Publisher

Wiley

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