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PubMed1997

Computerized videokeratography of keratoconus kindreds.

OBJECTIVE: To assess the role of heredity in the development of keratoconus. DESIGN: Prospective study. SETTING: Eye clinic providing secondary and tertiary ophthalmic care in Toronto. PATIENTS: Thirty-nine patients with keratoconus (57 eyes) and 48 relatives of 11 patients with keratoconus. The corneal topography of the family members was compared with that of a group of 68 volunteer control subjects (136 eyes) without clinical evidence or a family history of keratoconus. OUTCOME MEASURES: Three quantitative measures derived from computerized videokeratography: the relative steepness of the inferior cornea versus the superior cornea, central corneal power and the difference in central corneal power between the two eyes. All the data were statistically analysed with the use of nonparametric discriminant analysis. RESULTS: Fifteen family members who were believed to be clinically normal on the basis of refraction, keratometry and slit-lamp examination has statistically significant topographic abnormalities suggestive of early or mild keratoconus. CONCLUSIONS: The presence of these findings in family members of patients with keratoconus may represent the incomplete expression of a gene contributing to the development of the condition. Pedigree analysis suggested an autosomal dominant inheritance pattern in 9 of the 11 families. Our results underline the value of videokeratography for accurate family pedigree analysis and the diagnosis of keratoconus.

Adolescent↗
PubMed1997

[Familial visceral myopathy].

We report a patient with intestinal pseudo-obstruction in which both the histopathological findings and the clinical history strongly suggest a visceral myopathy of familial type. Reviewing the clinicopathological descriptions of the different families appearing in the literature, is evident that both the presentation (severity, distribution of lesions, etc) and the inheritance pattern seem not to be clearly delimitated, and it has been recently suggested that it may be related to the mitochondrial myopathies. The useless of conventional biopsy procedures (due to the almost exclusive affectation of the external muscle layer of the intestinal wall); the frequently patchy distribution of the lesions (which might be overlooked in a routine histological handling of a resection specimen) and the extensive range of symptoms of the disease, support the paramount importance of a high index of suspicion (obviously, the clinical history plays a fundamental role). In this setting, it is also interesting to emphasize the utility of manometric studies for the correct diagnosis and management of these patients; as well their possible application to identify asymptomatic heterozygotes.

Adolescent↗
PubMed1997

Multiple vertebral segmentation defects. Brief report of three patients and nosological considerations.

Multiple vertebral segmentation defects i.e. multiple malformations of vertebrae and ribs are characterized by short neck, scoliosis, short trunk and deformity of the ribcage. There are three major subtypes; Jarcho-Levin syndrome, spondylothoracic dysostosis and spondylocostal dysostosis, with different inheritance patterns, survival rates and associated malformations. We describe three cases of multiple vertebral segmentation defects, two with familial spondylothoracic dysostosis and one with sporadic spondylothoracic dysostosis, and anomalies i.e. super-numerary breast, clubfeet deformity, myelomeningocele, intradural lipoma, and Arnold-Chiari malformation.

Abnormalities, Multiple↗
PubMed1996

The retinal ganglion cell classes of New World primates.

In the primate retina there are distinct ganglion cell classes, exhibiting particular morphologies and central projections, each responsible for conveying particular types of visual information to the brain. The chief retinal inputs to the cortex arise from specific ganglion cell classes, M-ganglion cells, responsible for carrying the luminance signal, and P-ganglion cells, that convey the red-green color opponent signal, as well as high contrast luminance signal. There are other ganglion cell classes, such as small-field bistratified cells, exhibiting dendrites that stratify at two different levels in the inner plexiform layer, which convey the blue-yellow color opponent signal. Most published data concerning primate retinal ganglion cell anatomy and physiology have been obtained from Old World species. Studies on New World monkeys have recently become of interest since they differ from the Old World monkeys with respect to the color vision inheritance pattern. On reviewing retinal ganglion cell layer organization in New World monkeys, it seems that there are more similarities than differences in relation to the Old World monkeys. Diurnal genera of New World monkeys exhibit a well-developed fovea centralis and ganglion cell density peak, as well as peripheral density values which are in the range reported for Old World monkeys and human. Moreover, all the major ganglion cell classes identified in Old World monkeys are also present in New World primates. Up to now, no obvious anatomical differences between dichromats and trichromats have been reported. The only genus that is significantly different from the others is the Aotus. It exhibits lower ganglion cell density in the central retina, and apparently lacks the small-field bistratified cells.

Animals↗
PubMed1998

Familial eosinophilia: clinical and laboratory results on a U.S. kindred.

We describe a five-generation kindred with familial eosinophilia (FE; MIM131400), characterized by the occurrence of sustained eosinophilia of unidentifiable cause in multiple relatives. The inheritance pattern is consistent with an autosomal dominant pattern. Among 52 related subjects studied, 19 were affected and 33 were unaffected. Ten unaffected spouses were also evaluated. Four subjects with sustained eosinophilia were diagnosed with cardiac abnormalities and two of them also had neurologic symptoms. In comparison with the unaffected or spouses, evaluation of complete blood counts showed that the affected relatives had, as expected, significantly higher white cell (P < 0.005) and absolute eosinophil counts (P < 0.001) and lower red cell counts (P < 0.05). Evaluation of serum cytokine levels (IL-5, IL-3, and granulocyte-macrophage colony-stimulating factor (GMCSF) and serology for parasitic helminth infection demonstrated no differences between the affected and unaffected individuals; no individuals studied had serologic evidence for parasitic infection. There were also no differences in anti-nuclear antibody, serum cobalamin (vitamin B12) level, immunoglobulin level, leukocyte alkaline phosphatase, rheumatoid factor, HLA analysis, and stool findings for ova and parasites. Among eight affected persons who had peripheral blood or bone marrow karyotype analysis, two carried the same chromosome abnormality, a pericentric inversion of chromosome 10, inv (10) (p11.2q21.2). A gene mapping study is currently underway to study the underlying genetic mechanism(s) of this syndrome.

Adolescent↗
PubMed1998

[Autosomal dominant nocturnal frontal lobe epilepsy. An electroclinical and genetic description of a Norwegian family with ten affected members].

We describe a Norwegian family with clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. Seizures started in childhood. Neurological examination and neuroimaging were normal. Interictal EEG registrations were mostly normal, ictal EEG registrations disclosed left frontal epileptiform discharges in two of three patients examined and just shallow arousal preceding the attack in one of the three patients. Segregation analysis indicated an autosomal dominant inheritance pattern, and the patients were subsequently diagnosed as having autosomal dominant nocturnal frontal lobe epilepsy, a disorder first described in 1995. A missense mutation in the gene for the alpha-4 subunit of the neuronal nicotinergic acetylcholine receptor was recently described in an Australian family with this disorder. Our Norwegian family proved to have a novel insertion mutation (776ins3) in the same gene. This mutation affects the second transmembrane domain (M2) which forms the critical section of the ion channel. This is the first case of idiopathic partial epilepsy where the underlying molecular defect has been found. The fact that a dysfunction of the nicotinergic acetylcholine receptor may give rise to frontal epileptic seizures was surprising and may shed new light on the basic mechanisms of epileptogenesis. Manipulations of the cholinergic system may open up a new therapeutic approach.

Adolescent↗
PubMed1976

Tumoral calcinosis and Engelmann disease.

Four cases of Engelmann disease were observed in a dominant inheritance pattern in a family of St. Landry Mulattoes. In the youngest sibship, one of the cases also had tumoral calcinosis. Another sib had only tumoral calcinosis, though some findings suggested that this sib may also have had Engelmann disease. All 3 of the younger sibs had snow-capped teeth. It is suggested by this family that snow-capped teeth may be part of the syndrome of Engelmann disease.

Bone Diseases, Developmental↗
PubMed1998

Genetic and environmental components of thyroxine variation in Mennonites from Kansas and Nebraska.

Thyroxine is an endocrine hormone that regulates cellular and organismic metabolism. Current research on thyroxine has primarily examined its adaptive potential and genetic inheritance patterns. To date, no studies have attempted to investigate the interaction between the genetic and environmental components of thyroxine variation. This approach is useful because hormones are on feedback regulation; thus interaction occurs between the environment and gene expression. The purposes of this research are to characterize the genetic and environmental components of thyroxine variation using univariate statistics and to estimate the genetic and cultural heritabilities through path analysis. For univariate analyses, analyses of variance are used to determine whether or not age, sex, or community affiliation are covariates of thyroxine level. Significant differences existed in thyroxine level based on sex and community affiliation (p < 0.05). The genetic and environmental components of thyroxine variation were partitioned through path analysis. Heritability was estimated at 0.317 +/- 0.109 for the genetic component and at 0.060 +/- 0.029 for the environmental component. The environmental variables that contributed to the variation in thyroxine level were caffeine consumption, blood calcium level, and biceps skinfold thickness.

Adolescent↗
PubMed1998

Imaging studies in a unique familial dysmyelinating disorder.

We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The white matter of an enlarged cerebrum and cerebellum showed delayed myelination. Proton spectroscopy showed normal N-acetylaspartate (NAA) levels. While the dysmyelinating disorder was clearly differentiated from Canavan disease by an absence of elevated NAA and differing histopathologic findings and autosomal-dominant inheritance pattern, there were similarities to this disease in the presentation and, to some extent, in the initial imaging findings.

Adolescent↗
PubMed1998

A naturally occurring mouse model of X-linked congenital stationary night blindness.

PURPOSE: To describe a naturally occurring X-linked recessive mutation, no b-wave (nob), that compromises visual transmission between photoreceptors and second-order neurons in mice. METHODS: Affected mice were identified by recording the light-evoked response of the retina, the electroretinogram (ERG). To evaluate visual transmission, cortical potentials were recorded with a scalp electrode. The inheritance pattern for nob was defined by breeding nob animals with normal mice. Retinal histologic analysis was performed by light microscopy. RESULTS: Although the photoreceptor-mediated ERG component (a-wave) was normal in nob mice, the major response component reflecting postreceptoral neuronal activity (b-wave) was missing. Visually-driven cortical activity was also abnormal in nob animals. At the light microscopic level, the nob retina appeared to have a normal cytoarchitecture. CONCLUSIONS: These findings suggest that the nob defect interferes with the transmission of visual information through the retina and that these mice are a useful model for the study of outer retinal synaptic function. In addition, this mutant mouse seems to provide an animal model for the complete form of congenital stationary night blindness, a human disorder in which patients have a profound loss of rod-mediated visual sensitivity.

Animals↗
PubMed1996

Severe neurotoxicity following 5-fluorouracil-based chemotherapy in a patient with dihydropyrimidine dehydrogenase deficiency.

Patients with decreased dihydropyrimidine dehydrogenase (DPD) activity are at increased risk for experiencing serious adverse reactions following 5-fluorouracil (5-FU)-based chemotherapy. Symptoms include severe and potentially life-threatening gastrointestinal toxicity, myelosuppression, and neurological toxicity. In the present study, we describe a 50-year-old Caucasian man who developed severe encephalopathy during his second cycle of 5-FU chemotherapy. The patient remained in a comatose state for 4 days but then showed dramatic improvement in his neurological status following continuous i.v. infusion of thymidine at 8 g/m2/day. Laboratory studies revealed the patient to be severely DPD deficient, as demonstrated by DPD enzyme activity from peripheral blood mononuclear cells being below the lower limit of the 95th percentile of a control population and by Western immunoblot analysis showing undetectable levels of DPD protein. Additional studies revealed a significant defect in pyrimidine catabolism with a 3.3- and 365-fold increase in the levels of uracil in plasma and urine, respectively, compared to normal subjects. Family studies suggest that the inheritance pattern of this syndrome is complex and most consistent with an autosomal recessive trait. This study demonstrates that cancer patients with DPD deficiency are at increased risk for developing severe neurological toxicity secondary to 5-FU chemotherapy, and that infusional thymidine should be considered as a potential rescue agent against this particular host toxicity.

Brain Diseases↗
PubMed1998

[Hereditary spherocytosis: one year study of erythrocyte membrane proteins].

Hereditary spherocytosis (HS) is a congenital hemolytic anemia which affects one person out of 5000 in Northern Europe. HS is caused by defects of the red cell membrane proteins involving mainly ankyrin or band 3, and less frequently, protein 4.2 or spectrin. The reduction of red cell osmotic resistance and the recognition of spherocytes on the peripheral blood smear are the primary laboratory tests necessary to evocate a diagnosis of hereditary spherocytosis. Analysis of the red cell membrane proteins using polyacrylamide gel electrophoresis is used to quantify individual proteins and to identify the protein defect related to a diagnosis of HS. Samples from 47 patients and 25 controls were studied by electrophoresis of the red cell membrane proteins. Protein deficiencies related to HS were demonstrated for 21 patients. In 4 other cases, abnormalities of membrane proteins unrelated to HS were also demonstrated. Electrophoresis of the red cell membrane proteins allows the identification of the protein deficiency related to HS and thus confirms the diagnosis of HS, but also points to the underlying molecular defect, the inheritance pattern and the clinical aspects of the disease.

Adolescent↗
PubMed1992

Patterns of alcoholism inheritance.

Like many other common, complex disorders, alcoholism tends to run in families. Evidence from animal studies as well as biochemical, electrophysiologic, and personality studies of alcoholics and their offspring indicate the existence of heritable factors predisposing to the development of alcoholism. Twin and adoption studies also support the idea that vulnerability to alcoholism depends in part on genetic factors. The observed inheritance, however, does not fit any simple pattern, indicating a substantial degree of etiologic heterogeneity in the alcoholism phenotype, with the ultimate manifestation of the disorder dependent on poorly understood gene-environment interactions. Efforts to address these issues, including the hunt for biological markers, defining more homogeneous subtypes of alcoholism, and molecular genetic strategies of potential use in alcoholism are reviewed.

Alcoholism↗
PubMed2006

Qualitative inheritance of rind pattern and flesh color in watermelon.

Watermelon [Citrullus lanatus (Thunb.) Matsum. & Nakai var. lanatus] is a diverse species, with fruits of different sizes, shapes, rind patterns, and flesh colors. This study measured the inheritance of novel rind phenotypes and verified the genetics of white, red, salmon yellow, and canary yellow flesh colors. For each of the 11 crosses, six generations (P(a)S1, P(b)S1, F1, F2, BC1P(a), and BC1P(b)) were produced to form 11 families. Three new genes were identified and designated as follows: Scr for the scarlet red flesh color of Dixielee and Red-N-Sweet, Yb for the yellow belly (ground spot) of Black Diamond Yellow Belly, and ins for the intermittent stripes of Navajo Sweet. The inheritance of the C gene for the canary yellow flesh color was verified as single dominant, and a new inbred type line was developed possessing that gene. Aberrations in the segregation of red, white, and salmon yellow flesh colors were recorded, raising questions on the inheritance of these traits. Finally, the spotted phenotype from Moon and Stars was combined with light green and gray rind patterns for the development of novel cultivars with distinctive rind patterns.

Breeding↗
PubMed1990

Hereditary nephritis in the bull terrier: evidence for inheritance by an autosomal dominant gene.

A high prevalence of renal failure has been reported in bull terriers in Australia. The pattern of inheritance was analysed in a family of 33 bull terriers in which 10 dogs had renal disease manifested by proteinuria, ultrastructural abnormalities in the glomerular basement membrane, renal failure, or 'end stage' kidneys. The presence of at least one affected parent for each affected offspring, the approximately equal male/female ratio and the apparent absence of 'generation-skipping', strongly supported an autosomal dominant mode of inheritance, assuming a fully penetrant single major gene locus. Further evidence was not compatible with either an autosomal recessive or X-linked inheritance pattern. This contrasts with the X-linked inheritance shown in Alport's-type human hereditary nephritis and hereditary glomerulopathy in the samoyeds. Hereditary nephritis in the bull terrier should be a useful model for non-Alport's-type human hereditary nephritis, which is also reported to have an autosomal dominant inheritance pattern.

Animals↗
PubMed1982

Clonal inheritance of the pattern of DNA methylation in mouse cells.

DNA-mediated gene transfer was used to investigate the mode of inheritance of 5-methylcytosine in mouse L cells. Unmethylated phi X174 replicative form DNA remains unmethylated after its introduction and integration into these cells. On the other hand, phi X174 replicative form DNA that was methylated in vitro at its C-C-G-G residues retains these methylations as shown by restriction enzyme analysis with Hpa II and Msp I to detect methylation at this specific site. Although these unselected methylated vectors are prone to lose 30-40% of their methyl moieties upon transfection, this demethylation appears to be random. Once established, the resulting methylation pattern is stable for at least 100 cell generations. In order to examine the specificity of methylation inheritance, fully hemimethylated duplex phi X174 DNA was synthesized in vitro from primed single-strand phi X174 DNA by using 5-methyl deoxycytidine 5'-triphosphate. This molecule was inserted into mouse L cells by cotransformation and subsequently was analyzed by a series of restriction enzymes. Only methylations located at C-G residues were conserved after many generations of cell growth. The results suggest that the inheritance of the cellular DNA methylation pattern is based on a C-G-specific methylase that operates on newly replicated hemimethylated DNA.

5-Methylcytosine↗
PubMed2005

A Bayesian approach for discriminating among alternative inheritance hypotheses in plant polyploids: the allotetraploid origin of genus Borderea (Dioscoreaceae).

Polyploidy is a common phenomenon occurring in a vast number of land plants. Investigations of patterns of inheritance and the origins of plants (i.e., autopolyploidy vs. allopolyploidy) usually involve cytogenetic and molecular studies of chromosome pairing, chromosome mapping, and marker segregation analysis through experimental crosses and progeny tests. Such studies are missing for most wild species, for which artificial crosses are difficult, not feasible, or unaffordable. We report here a Bayesian method to discriminate between alternative inheritance patterns in the two extant, tetraploid species of the monocot genus Borderea (Dioscoreaceae), which does not involve progeny array tests. Our approach is based on the screening of a large number of SSR genotypes, which were obtained from successful amplifications of 17 microsatellite regions in individuals of both B. chouardii and B. pyrenaica. We tested for tetrasomic vs. disomic modes of inheritance, using the Bayes factor test. Assignment of genotypes under both alternatives could be unequivocally done for 14 and 11 of the 17 studied microsatellite regions in B. chouardii and B. pyrenaica, respectively, totaling 9502 analyzed genotypes. The comparison of posterior probabilities for the two competing hypotheses across the surveyed loci clearly favored a disomic inheritance pattern. Linkage tests indicated that none of the studied SSR loci were in linkage disequilibrium, thus representing independent samples of the Borderea genome. These results, along with previous allozyme data, support the allotetraploid origin of this paleoendemic genus and reveal the lowest reported chromosome base number for the family of the yams.

Bayes Theorem↗