RESUMO
We describe a girl with motor and mental retardation, macrocephaly, a "coarse" face, choanal atresia, postnatal feeding difficulty, redundant skin with deep palmar and plantar creases, and histopathological evidence of altered elastic fibers, who died at the age of 11 months. We believe this represents another case of Costello syndrome. Lacking papillomata, she had choanal atresia and underwent a fatal outcome at an early age. The differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay and with cardio-facio-cutaneous and Noonan syndromes is discussed.
Assuntos
Anormalidades Múltiplas/patologia , Atresia das Cóanas/patologia , Deficiência Intelectual/patologia , Anormalidades Craniofaciais/patologia , Evolução Fatal , Feminino , Humanos , Lactente , Transtornos Psicomotores/patologia , SíndromeRESUMO
Sorbsy fundus dystrophy (SFD) is an autosomal dominant disorder that is characterized by bilateral loss of central vision secondary to choroidal neovascularization and/or pigment epithelial atrophy in the macula, with onset of visual symptoms usually in the fourth or fifth decade. Drusenlike changes may occur, with impaired dark adaptation and abnormal electroretinographic results.
Assuntos
Fundo de Olho , Degeneração Macular/genética , Mutação Puntual , Proteínas/genética , Adulto , Idoso , Cromossomos Humanos Par 22/genética , Cisteína/genética , DNA/análise , Feminino , Humanos , Macula Lutea/patologia , Degeneração Macular/enzimologia , Degeneração Macular/patologia , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Linhagem , Serina/genética , Inibidor Tecidual de Metaloproteinase-3RESUMO
We report the isolation and sequence of a human heart cDNA coding for cytochrome c oxidase (COX) subunit VIb (COX VIb). This cDNA extends 50 bp upstream from the region coding for the mature peptide. By Northern analysis, a single transcript of approx. 550 nucleotides (nt) has been identified in six human tissues. Southern analysis of human genomic DNA demonstrates the presence of multiple loci that show high homology to the cDNA. These loci cosegregate with either five or six different human chromosomes in human-rodent somatic cell hybrids. Using the COX6b cDNA, genomic sequences representing two of these loci have been isolated and characterized. The nt sequence analysis suggests that both loci represent COX6b pseudogenes.
Assuntos
Complexo IV da Cadeia de Transporte de Elétrons/genética , Família Multigênica , Miocárdio/enzimologia , Sequência de Aminoácidos , Sequência de Bases , Northern Blotting , Southern Blotting , DNA , Complexo IV da Cadeia de Transporte de Elétrons/metabolismo , Humanos , Dados de Sequência Molecular , RNA Mensageiro/metabolismo , Mapeamento por Restrição , Homologia de Sequência do Ácido NucleicoRESUMO
We have reviewed the structure, function, and biogenesis of mammalian cytochrome c oxidase, examined the tissue-specific expression of isoforms of cytochrome c oxidase subunits in different mammals, and attempted to correlate the data with our knowledge of cytochrome c oxidase deficiency, illustrated by one particular patient. Cytochrome c oxidase was isolated from bovine tissues, and individual subunits examined by SDS-PAGE, N-terminal peptide sequencing, and antibody binding. Isoforms of subunits VIa, VIIa, and VIII were identified, manifesting one pattern of expression in heart and skeletal muscle, and another in liver, kidney, and brain. In rat heart and liver, only one form of subunit VIIa was identified. Northern analysis of bovine and rat tissues suggested that the tissue-specific expression of subunits VIa and VIII is regulated transcriptionally in liver, kidney, and brain, and posttranscriptionally in heart and skeletal muscle. In humans, antibody binding documented isoforms of subunits VIa and VIIa, with the pattern of expression in heart and skeletal muscle differing from that in liver, kidney, and brain; our data suggested that both isoforms of subunit VIa may be expressed in human heart. In a patient with cytochrome c oxidase deficiency, the clinical, morphologic, and biochemical manifestations were much more severe in heart than in skeletal muscle. Antibody binding suggested partial assembly of the enzyme in heart. These and other data suggest considerably more variability in the tissue-specific expression of isoforms of cytochrome c oxidase subunits than previously recognized.
