Three Novel Spectrin Variants in Jaundiced Neonates.
Clin Pediatr (Phila)
; 57(1): 19-26, 2018 Jan.
Article
em En
| MEDLINE
| ID: mdl-28090778
Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Correlating erythrocyte morphology, clinical course, and computational analysis, we submit that each of the 3 variants is a probable pathogenic cause of the hereditary hemolytic conditions in these patients. We hope other pediatric practitioners caring for neonates with what appears to be idiopathic severe neonatal hyperbilirubinemia will look for spectrin variants as a possible cause, because additional cases with these specific variants along with this clinical phenotype are needed to confirm our postulate that these 3 cases are indeed pathogenic mutations.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Esferocitose Hereditária
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Espectrina
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Eliptocitose Hereditária
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Icterícia Neonatal
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Revista:
Clin Pediatr (Phila)
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Estados Unidos