Key result
A novel truncated apolipoprotein B mutation (apo B55) was identified in a proband and 3 relatives, segregating with atypical retinitis pigmentosa and hypobetalipoproteinemia in the family.
Population
20 family members, including a proband with atypical retinitis pigmentosa and familial hypobetalipoproteinemia
Design
Case_series
Authors
Loading...
Apo B mutation may link hypobetalipoproteinemia to late-onset retinitis pigmentosa; leaves open causal role pending larger studies.
Case Report (n=20)
Identified a novel apo B55 truncation mutation responsible for familial hypobetalipoproteinemia and atypical retinitis pigmentosa in a family.
Talmud et al. (1992) conducted a case report in Familial hypobetalipoproteinemia and atypical retinitis pigmentosa (n=20). Apolipoprotein B55 mutation (C to T transition at nucleotide 7692) vs. Wild-type allele (unaffected family members) was evaluated on Presence of apo B55 mutation and segregation with disease. A novel truncated apolipoprotein B mutation (apo B55) was identified in a proband and 3 relatives, segregating with atypical retinitis pigmentosa and hypobetalipoproteinemia in the family.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: