A previously unrecognised X-chromosomal mental retardation syndrome is described. Clinical hallmarks are mental retardation, epileptic seizures, hypogonadism, and -genitalism, microcephaly and obesity. Life expectancy of patients is less than two years. Based on the major clinical symptoms this condition is referred to by the acronym MEHMO. Haplotype and two-point linkage analyses in a large three-generation family assign the disease locus to Xp21.1-p22.13, to a region that is flanked by CYBB and DXS365.

We have investigated a family with severe X-linked spastic paraplegia and assigned the disease locus to Xq11.2-q23 by linkage and haplotype analysis. This region harbors the gene coding for proteolipid protein, which is mutated in one of the two established forms of X-linked spastic paraplegia, i.e., SPG2. We have performed extensive mutation analysis of this gene. Our failure to detect a mutation in this family suggests a third locus in X-linked recessive spastic paraplegia.

A gene homologous to the E. coli groEL locus was identified on the plastid genome of the unicellular red alga Cyanidium caldarium strain 14-1-1 (synonym: Galdieria sulphuraria). The complete nucleotide sequence was determined and compared to bacterial- and nuclear-encoded counterparts of higher plants. At the amino-acid level the C. caldarium gene shows 70% homology to the corresponding gene of the cyanobacterium Synechococcus and 52% homology to nuclear-encoded counterparts of higher plants, respectively. Northern and Western blot experiments were used to investigate the dependence of the transcript- and protein-level on culture temperature and heat shock.