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CYBA, 1-BP DEL, 272C AND Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Significance: Pathogenic
ClinVar: RCV000002345

Variant: CYBA, 1-BP DEL, 272C

Type: Variant
Allele: CYBA, 1-BP DEL, 272C 17296
Gene:
Type: Deletion
References: OMIM: 608508.0002

Condition

Disease: Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative

Citation

    In a patient with autosomal recessive cytochrome b-negative CGD (233690), Dinauer et al. (1990) found compound heterozygosity for 2 point mutations in the CYBA gene. One of them consisted of a single nucleotide deletion, 272C, resulting in a frameshift. The other was a 297G-A change, resulting in and arg90-to-gln (R90Q) substitution (608508.0003). The patient had previously been reported by Curnutte et al. (1987).
PMID:2243141, PMID:3571224