0000000000462756
AUTHOR
J. Herwig
Detection of mutations in the apolipoprotein CII gene by denaturing gradient gel electrophoresis. Identification of the splice site variant apolipoprotein CII-Hamburg in a patient with severe hypertriglyceridemia
AbstractFamilial apolipoprotein (apo) CII deficiency is a rare autosomal recessive inborn error of metabolism clinically resembling lipoprotein lipase deficiency. A number of mutations of the apo CII gene are known to date; they are located in the promoter region, the coding exons, or in the splice junctions. We present a simple assay based on PCR and denaturing gradient gel electrophoresis, which allows scanning of the promoter, the entire coding sequence, and the splice junctions of the apo CII gene for sequence variants. All gene fragments are amplified using a common PCR protocol and are examined for mutations on a single gradient gel. Using this method and direct sequencing, we identif…
Familial insulin resistant diabetes associated with acanthosis nigricans, polycystic ovaries, hypogonadism, pigmentary retinopathy, labyrinthine deafness, and mental retardation.
Two sibs, whose parents are first cousins, had diabetes mellitus with hyperinsulinism, insensitive insulin receptors, and acanthosis nigricans. Both patients had pigmentary retinopathy, secondary cataracts, labyrinthine deafness, mental retardation, and cerebral atrophy. They were disproportionately short with relatively broad hands and feet and slightly coarse face. The young woman had secondary amenorrhea and polycystic ovaries and the boy gynecomastia and hypergonadotrophic hypogonadism. This appears to be the second family with a new autosomal recessive disorder differing from Alstrom syndrome by the presence of mental retardation and absence of renal insufficiency. Impaired insulin rec…
Spontanfrakturen im Säuglingsalter durch Kupfermangel
A preterm infant of 25 weeks’ gestation developed at 4 months of age an “impressed” fracture of the right femur. In another preterm infant of 27 weeks’ gestation, multiple fractures of the radius and metacarpalia were observed at age 5 months. Also a full term twin showed multiple rib fractures. Additional radiological findings were: generalized skeletal osteopenia, cupping and fraying of the metaphyses of the long bones, and subperiosteal new bone formation. Further symptoms were repeated apnoic attacks, anemia, neutropenia, and low serum levels of both copper and coeruloplasmin. Alimentary copper deficiency was diagnosed and oral copper substitution (CuCl2 1,2–2,0 µmol/kg/d) initiated. Th…
Skelettveränderungen bei Frühgeborenen mit Kupfermangel
We describe 5 preterm infants (25th to 30th week of gestation) suffering from alimentary copper deficiency. The diagnosis was confirmed by low serum copper and caeruloplasmin concentrations. Characteristic clinical findings were repeated apnoeic attacks, hypopigmentation of skin and hair, anaemia, neutropenia and leucopenia refractory to other therapy, as well as increasing serum alkaline phosphatase activity in the first month of life. Starting in the 3rd to 12th week of life the radiographic findings were general skeletal osteoporosis and retardation, metaphyseal radiodense lines, irregular metaphyses, cupping and spurring of the metaphyses, followed by multiple fractures and subperiostea…