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Summary
RETICULAR DYSGENESIS
SEVERE COMBINED IMMUNODEFICIENCY WITH LEUKOPENIA DE VAAL DISEASE
267500
OMIM = Online Medalian Inheritance of Men
33355
1p35.1
rare
autosomal recessive
mutation in the mitochondrial adenylate kinase-2 gen
symptoms
agranulocytosis
early death
hearing defect, deafness
immunodeficiency
leukopenia
lymphopenia
onset, infancy
onset, neonatal
sepsis
laboratory finding
Literature
Sato R,et al.Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelinationClin Genet002017
Danhauser K,et al.EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosumMetab Brain Dis313717-7212016
Vedrenne V,et al.Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiencyAm J Hum Genet915912-9182012
Alodaib A,et al.Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem diseaseEur J Hum Genet25179-842016
McNeill N,et al.Functionally pathogenic EARS2 variants in vitro may not manifest a phenotype in vivoNeurol Genet34e1622017