Helge Boman

Sotos syndrome in two brothers

Two brothers presented from birth with features characteristic of Sotos syndrome (cerebral gigantism): overgrowth, craniofacial abnormalities, and mental retardation with hyperactive and aggressive behavior. X‐ray examination of the hands revealed imbalanced and advanced skeletal age in one, whereas anterior fontanel bones were present in both brothers. Various hormone concentrations in plasma were all within normal limits, as were the results of a search for abnormal metabolites in plasma and urine. The occurrence of this usually sporadic syndrome in two sons of possibly remotely consanguineous, healthy parents, suggests that in some cases Sotos syndrome may be inherited as an autosomal recessive trait. Thus our observation may support the suggestion of heterogeneity of Sotos syndrome. Until specific tests for the identification of various types are available, genetic counseling for this syndrome is difficult.

Distribution of the E1a Gene among Norwegian Blood Donors Studied by an Automated Screening Method

An automated screening method for the atypical cholinesterase gene (E1a) is described. By this method, 97 heterozygotes but no homozygotes for the atypical allele were found in a series of 3,143 Norwegian blood donors (gene frequency 0.0154). The method seems useful in the screening of large series of sera for the atypical enzyme also in samples stored frozen for many years.

Amino acid composition of serum high density lipoprotein in patients with familial lecithin:cholesterol acyltransferase deficiency

The amino acid composition of serum high density lipoprotein (HDL) from two patients with LCAT deficiency has been investigated. HDL from the patients was composed of two fractions, one of high molecular weight (peak 1) and one of relatively low molecular weight (peak II). The amino acid composition of peak I was close lo that of normal HDL except for lower levels of serine and glutamic acid and a higher level of isoleucine. In peak II increased amounts of histicline and arginine and decreased amounts of threonine, serine, proline, methionine, isoleucine, tyrosine, phenylalanine, and cysteine were found.

Studies on inherited antigenic variation of human serum β-lipoprotein by passive hemagglutination

Sera from 39 unselected children with thalassaemia who had received multiple blood transfusions were examined for the presence of isoantibodies to β‐lipoprotein antigens. Precipitating antibodies were found in 8 sera. In 5 of these, additional non‐precipitating antibodies were detected by the passive hemagglutination method. In another 7 serum samples, only non‐precipitating antibodies were present. Thus, 15 out of 39 sera (38.5 %) contained isoantibodies to β‐lipoprotein antigens. This frequency of antibodies to β‐lipoprotein antigens in patients with thalassaemia is the highest ever reported for any group of multiply‐transfused patients.

Studies on inherited antigenic variati on of human serum ß‐lipoprotein by passive hemagglutination

Sera from 101 multiparous (3 births or more) women and from 70 unselected normal individuals of both sexes have been tested by the passive hemagglutination method against red blood cells coated with ^‐lipoprotein. Neither antibodies to β‐lipoprotein antigens, nor anti‐“Ag(e)” antibodies were detected. Thus, a previous observation of isoimmunization during pregnancies with inherited β‐lipoprotein antigens was not confirmed.

Studies on Inherited Antigenic Variation of Human Serum β-Lipoprotein by Passive Hemagglutination

A presumed monospecific isoantibody to a β -lipoprotein antigen was found by the passive hemagglutination technique in the serum of a young man suffering from hemophilia A, who had r

Amino acid composition of the serum low density lipoprotein in patients with familial lecithin:cholesterol acyltransferase deficiency

The amino acid composition of the serum low density lipoprotein (LDL) from three sisters with deficiency of the enzyme lecithin:cholesterol acyltransferase has been investigated. A slight increase in arginine, glutamic acid, and alanine was found in the LDL of the patients compared with the amounts of these amino acids in the LDL of five normal subjects.