A unique case of hyperammonemia due to CA5A deficiency: Impact of coexisting gene mutations, pseudogene, and microdeletion.
Am J Med Genet A
; : e63809, 2024 Jul 01.
Article
em En
| MEDLINE
| ID: mdl-38949089
ABSTRACT
Carbonic 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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Am J Med Genet A
/
Am. j. med. genet., Part A
/
American journal of medical genetics. Part A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Índia