6533b7d4fe1ef96bd1262908
RESEARCH PRODUCT
Lecithin-cholesterol-acyltransferase deficiency: autosomal recessive transmission in a large kindred.
G. FiorelliP. DiekerK. H. LangerH. J. MenzelGerd Utermannsubject
Plasma lipoproteinMaleHeterozygoteThalassemiaLipoproteinsGenes RecessiveConsanguinityConsanguinityLecithin Cholesterol Acyltransferase DeficiencyGeneticsmedicineHumansGenetics (clinical)GeneticsLecithin cholesterol acyltransferase deficiencybiologyHeterozygote advantagemedicine.diseaseHypolipoproteinemiasPedigreeAcyltransferaseLecithin—cholesterol acyltransferasebiology.proteinThalassemiaFemaleHypolipoproteinemiadescription
Thirty-four members of a single Sardinian kindred with lecithin-cholesterol-acyltransferase deficiency have been studied. The kindred spans four generations and the parents of the two affected siblings are blood relatives. Segregation of the acyltransferase deficiency gene in the family clearly demonstrated an autosomal recessive mode of inheritance. Thirteen family members, including all obligate heterozygotes, had roughly half-normal acyltransferase activities (mean +/- S.D. = 0.39 +/- 0.06 mU/ml) when compared to 17 intrafamilial controls and spouses (mean +/- S.D. = 0.72 +/- 0.09 mU/ml) and 40 blood donors from Marburg/Lahn (mean +/- S.D. =0.76 +/- 0.1 mU/ml). Characterization of the heterozygotes did not reveal abnormalities in their plasma lipoproteins. LCAT deficiency and the beta-thalassaemia trait coexisting in this kindred segregated independently.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2008-04-23 | Clinical genetics |