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PubMed1994

MAR, a novel high-incidence Rh antigen revealing the existence of an allelic sub-system including Cw (Rh8) and Cx (Rh9) with exceptional distribution in the Finnish population.

We present new genetic evidence obtained from population studies on Finns and from the studies on Finnish blood donors as well as their selected families using an antibody that defines a novel high-incidence Rh antigen MAR. Anti-MAR antibody shows an antithetical relationship to both anti-Cw and anti-Cx. The Rh antigens Cw (RH8) and, more strikingly, Cx (RH9) have each an exceptionally high frequency in Finns. Our studies on their genetic relationship indicate that the three antigens Cw, Cx and MAR behave as if being determined by alleles of the same Rh sub-system. Furthermore, we conclude that this sub-system manifests an inheritance pattern that is distinct from but analogous to that of the two well-known allelic sub-systems of C/c and E/e antigens.

Adult↗

PubMedDate not supplied

Diagnostic screening of mitochondrial DNA mutations in Australian adults 1990-2001.

BACKGROUND: Many diverse pathogenic mitochondrial DNA (mtDNA) mutations have been described since 1988. The Melbourne Neuromuscular Research Institute (MNRI) has undertaken diagnostic detection of selected mtDNA mutations since 1990. MtDNA mutations screened have included point mutations associated with Leber's hereditary optic neuropathy (LHON; G3460A, G11778A and T14484C), mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS; A3243G), myoclonus epilepsy and ragged red fibres (MERRF; A8344G) and Leigh's syndrome/neuropathy ataxia retinitis pigmentosa (LS/NARP; T8993C/G). Samples have also been screened for deletions/ rearrangements associated with Kearns-Sayre syndrome (KSS) and chronic progressive external ophthalmoplegia (CPEO). AIMS: To present an audit of the MNRI mtDNA diagnostic service between 1990 and 2001, encompassing 1725 referred patients. METHODS: The detection techniques carried out included polymerase chain reaction amplification of mtDNA combined with restriction fragment length polymorphism analysis for mtDNA point mutation detection, supplemented with selected sequence analysis and Southern blots for the detection of deletions/ rearrangements. Tissues tested included blood, hair and skeletal muscle. RESULTS: Of the 1184 patients screened for MELAS A3243G, 6.17% were positive for the mutation, whereas for MERRF A8344G, 2.21% carried the mutation and for LS/NARP T8993C/G, 0.32% carried the mutation. The outcomes for the LHON mutations were G11778A, 6.60%, T14484C, 5.76% and G3460A, 0.29%. Of the patients referred for KSS and CPEO, 17.72% had deletions/rearrangements. CONCLUSIONS: Overall, the detection rate of mtDNA point mutations was low. The protean clinical features of mitochondrial disorders and the frequency of partial phenotypes lead to requests for tests in many patients with a relatively low likelihood of mtDNA mutations. An improved algorithm could involve mutation screening appropriate to the phenotype using sequencing of selected mtDNA regions in patients with a high likelihood of mtDNA disease. Features increasing the likelihood of mtDNA mutations include the following: (i) a typical phenotype, (ii) a maternal inheritance pattern and (iii) histochemical evidence of mitochondrial abnormality in the muscle biopsy. Efficient laboratory diagnosis of mtDNA disease involves good communication between the physician and laboratory scientists, coupled with screening of the appropriate tissue.

Adult↗

PubMed2004

Retinitis pigmentosa: understanding the clinical presentation, mechanisms and treatment options.

Retinitis pigmentosa (RP) is a leading cause of human blindness due to degeneration of retinal photoreceptor cells. Causes of retinal degeneration include defects in the visual pigment, defects in the proteins important for photoreceptor function or in enzymes involved in initiating visual transduction. Despite the diversity of genetic mutations identified in inherited forms of retinal dystrophy, there is a common end result of photoreceptor death and functional blindness. In this review, pertinent anatomical and physiological pathways involved in RP and the underlying genetic mutations are outlined, including a discussion on the inheritance patterns revealed by advances in molecular biological techniques. Characteristics of progression rates of visual field loss and current management options will provide useful clinical guidelines for the management of patients with RP.

Adult↗

PubMed1976

The fitness of human translocation carriers.

A simple method to estimate the mean fitness of human translocation carriers is described. The method is based on information about the inheritance pattern of the translocations. This kind of data can be obtained from the surveys of the chromosome constitutions of new-born babies. The following fitness estimates are obtained: D/D translocation carriers, 0-94; D/G translocation carriers, 0-83; and reciprocal translocation carriers, 0-67. The estimates are rather uncertain due to the scarcity of information, but they are consistent with the expected results. More accurate estimates will be obtained in the future when more data on translocation carriers are available and the cytological classification of the different translocations becomes more exact.

Biological Evolution↗

PubMed1987

Physical mapping of genes and sequences at the end of the human X chromosome short arm.

Human-rodent somatic cell hybrids containing deleted and translocated human X chromosomes have been used to map genes and sequences in and around the pseudoautosomal region. The following order was found: (DXS69, DXS70, DXS143)-(DXS31, STS)-MIC2. This order is consistent with the known inheritance patterns of DXS31, STS and MIC2. Assuming that the translocations and deletions we have studied are not complex rearrangements, we conclude that the pseudoautosomal region consists of less than 5 X 10(6) bp of DNA.

Animals↗

PubMed1990

Glutamate dehydrogenase in cerebellar mutant mice: gene localization and enzyme activity in different tissues.

Many similarities of both the inheritance pattern and the neuropathology can be observed between olivopontocerebellar atrophies, or so-called multiple system atrophies (MSAs), and murine cerebellar mutations like Purkinje cell degeneration, nervous, staggerer, weaver, and reeler. Our study aimed to test whether the glutamate dehydrogenase (GDH) deficiency observed in some MSA patients could be found also in any of the murine mutants. GDH activity was assayed in several organs of these mutants, and no general deficiency was detected. By contrast, the level was found to be elevated in the cerebellum. The GDH gene was localized on mouse chromosome 14 and does not map close to any known neurological mutation in the mouse. We conclude, for the moment, that none of these cerebellar mutant mice can be considered as an animal model for GDH-deficient MSA.

Animals↗

PubMed1991

Aplasia cutis congenita associated with syndactyly and supernumerary nipples: report of a second family with similar clinical findings.

Aplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin at birth. A subtype consisting of a solitary scalp defect in association with limb abnormalities has been described. We report a case of ACC in association with 3,4 syndactyly and supernumerary nipples with an apparent autosomal dominant inheritance pattern.

Abnormalities, Multiple↗

PubMedDate not supplied

Dyskeratosis congenita in an adolescent girl with associated choanal atresia.

Dyskeratosis congenita is a rare, progressive, degenerative disorder characterized by cutaneous and mucosal involvement in the first decade of life with malignant changes and bone marrow failure in the second and third decades. The primary inheritance pattern is X-linked recessive, with the majority of cases presenting in boys. We report dyskeratosis congenita in an adolescent girl with choanal atresia, a previously unreported association.

Adolescent↗

PubMedDate not supplied

Cutis laxa type II and wrinkly skin syndrome: distinct phenotypes.

Cutis laxa is a heterogeneous group of disorders with variable phenotypes and inheritance patterns. Type II cutis laxa has features overlapping with wrinkly skin syndrome, as a result of which they are regarded as one disorder with a variable spectrum of severity by some authors. To overcome this existing confusion, we present three patients with cutis laxa type II and review the literature to highlight the important differentiating features between cutis laxa type II and wrinkly skin syndrome.

Child, Preschool↗

PubMed1992

Classical genetic analyses of responses to sedative-hypnotic drugs in crosses derived from long-sleep and short-sleep mice.

A classical (Mendelian) genetic analysis of responses to eight sedative-hypnotic compounds (ethanol, urethane, trifluoroethanol, chloral hydrate, barbital, paraldehyde, methyprylon, pentobarbital) was conducted in crosses derived from mouse lines that were selectively bred for differential duration of anesthesia following ethanol. The sleep-time responses of these mice, the long-sleep (LS) and short-sleep (SS) mouse lines, as well as the F1, F2 and backcross (F1 x LS, F1 x SS) generations were measured. Generally, differences in responses among the generations were greater for water soluble compounds than were differences for more lipid soluble compounds. Also, the inheritance of responses to water soluble compounds could be explained primarily by additive effects of alleles while the inheritance patterns for more lipid soluble compounds were more complex. Genetic correlation with ethanol response decreased with increasing lipophilicity. These results suggest that the selection of the LS-SS mouse lines was specific for water soluble anesthetic agents. Because several of these agents are known to act at GABA receptors, examination of the interactions of compounds which differ in lipid solubility at GABA receptors from LS and SS mice may prove useful in elucidating the mechanism of the anesthetic actions of ethanol and other drugs.

Alcohol Drinking↗

PubMed1980

Late onset spinal muscle atrophy--a sex linked variant of Kugelberg-Welander.

A syndrome of progressive muscular atrophy in reported in male members of a Caucasian family. Two affected members were examined in detail, one with post mortem. Fasciculations and atrophy of tongue as well as of the proximal limb muscles were observed, and there was profound weakness of the proximal muscles. The EMG and muscle biopsy were consistent with a neurogenic disease. The most pronounced lesion was in the lateral part of the anterior horn, with minimal involvement of the ventral portion of the anterior horns and sparing of the neurons of Clarke's column. Two earlier families with possible Kugelberg-Welander syndrome have been reported in which a sex-linked form also seems probable, and the varied inheritance pattern and uncertain pathological correlations suggest that the Kugelberg-Welander and familial amyotrophic lateral sclerosis both represent heterogenous neurological disorders.

Adult↗

PubMed1979

Acatalasia in two Peruvian siblings.

The oral findings in two Peruvian brothers, 10- and 11-years-old, with acatalasia are presented. Gingival necrosis and severe alveolar bone destruction were the main oral manifestations. Otherwise the patients were in good health. Thirteen hypocatalasemic individuals, including both parents, were found among 29 relatives of the probands examined from four generations. No other acatalasemic individuals were found. Hypocatalectic relatives of the probands did not have oral lesions, and no other abnormalities were detected. The parents of the affected children were not known to be related; however, both parents and their families come from the same small rural community. The inheritance pattern in the kindred was compatible with an autosomal recessive disorder. It is postulated that the gingival lesions resulted from damage to tissue from hydrogen peroxide generated by organisms in gingival plaque. The hydrogen peroxide cannot be degraded by gingival tissue or by leukocytes genetically lacking the enzyme catalase.

Catalase↗

PubMed1989

Amelogenesis imperfecta: a scanning electron microscopic and microradiographic study.

The aim of the present study was to use scanning electron microscopy (SEM) to visualize the morphology of the enamel surface in 12 primary teeth from children with amelogenesis imperfecta (AI). The observations were correlated to genetic, clinical and microradiographic data from the same teeth and to non-affected control teeth. SEM showed similar disturbances in teeth with a clinical predominance of hypoplasias and in teeth with a predominance of hypomineralization. In the microradiographs the enamel of most teeth showed both hypoplasias and areas of hypomineralization, independently of the predominant clinical manifestation. In the one boy with an X-linked inheritance pattern, both SEM and microradiography showed the morphology of the enamel to be unique in the present study. In the other teeth, similar manifestations were found in cases with AI as an AD trait and in the sporadic cases.

Amelogenesis Imperfecta↗

PubMed2006

Hay-Wells syndrome (AEC): a case report.

We would like to present a case of the rare genetic skin disorder catalogued as AEC syndrome. This rare disorder was described in 1976 by Hay and Wells in seven individuals from four families, and it entails a complex polymalformative syndrome with an autosomal-dominant inheritance pattern and variable penetration. Descriptive explanation and facial and intraoral images of this rare disorder constituted the study design. The neonatal report outlines dysplastic phenotype, micrognathia, hypoplasia of the hard and soft palate, cleft palate, small nose, mammary hypoplasia with ectopic mammary nodules, hypoplastic external genitalia with clitoral hypertrophy, hypoplasia of the nails, a tendency towards dorsiflexion of the big toe on both feet, ankyloblepharon filiforme, low positioning of the auricles and faulty development of the left auricle, scaly exanthema with eritrodermatitis and hyperkeratosis, good lung ventilation, normal heart rhythm and normal neurological examination. Although only a few cases published are available, clinical variability is one of the hallmarks of AEC syndrome. The majority of authors consider ankyloblepharon, ectodermal dysplasia and orofacial clefting as cardinal signs. They are all are present in the case reported.

Abnormalities, Multiple↗

PubMed1996

Clinical implications of unstable DNA repeat sequences.

In this article we review the clinical and genetic features characteristic of a number of diseases recently explained by a novel genetic mechanism: unstable segments of the genome containing trinucleotide repeat sequences. Disorders identified to date are mostly progressive, and display unusual inheritance patterns such as anticipation. Anticipation is manifested as an earlier age at onset or a more severe phenotype in later generations of a family, and can be correlated to an increased repeat expansion size. Thus in later generations the disease onset can take place in childhood whereas affected individuals in earlier generations had only adult symptoms. Paediatric cases of typically adult disorders have been shown to be caused by exceptionally long repeat sequences. Anticipation has been observed in a number of disorders not yet identified at the molecular level. Such disorders could be caused by repeat expansions, and are presently subject to intense research efforts. If repeat sequence expansions are related to these disorders, the longest expansions should be seen in the childhood cases, making these the optimal cases to study. Various DNA-based methods have been developed for the detection of these mutations, making possible preclinical and prenatal diagnostics as well as detection of novel expansions.

Adult↗

PubMed1985

Genetics of congenital heart malformations: a stochastic model.

A stochastic model is proposed to explain how alterations in the properties of developing endocardial cells could control the outgrowth of endocardial cushions in normal persons, in subjects from families with a predisposition to congenital heart defects, and in subjects with trisomy 21. Normal and abnormal outgrowth of the endocardial cushions of the atrioventricular (AV) canal were modeled by computer simulations. Computer simulations depicted not only the sequence of normal AV valve development, but also illustrated how increased cellular adhesiveness of fibroblasts from the endocardial cushions of the AV canal--which we have observed in vitro among cultured cells from Down syndrome abortuses--may result in AV canal defects. The stochastic model so elaborated demonstrates how single gene changes may result in abnormalities in only a proportion of subjects carrying mutant alleles, yielding inheritance patterns characterized previously as being "multifactorial" in origin.

Cell Adhesion↗

PubMed1991

The process of syndrome delineation and the heterogeneity of hearing loss.

Conductive, sensorineural, or mixed hearing loss may occur alone or together with various other abnormalities making up a large number of different syndromes. Hearing loss is also known to occur with various percentages in different syndromes. The process of syndrome delineation is illustrated using syndromes with hearing loss as examples. As an unknown syndrome becomes delineated, its phenotypic spectrum, its natural history, and its inheritance pattern or risk of recurrence become known, allowing for better patient care and family counseling.

Congenital Abnormalities↗

PubMed1993

Hereditary vasopressin resistance in man and mouse.

The DI +/+ Severe hereditary nephrogenic diabetes insipidus mouse is resistant to the antidiuretic action of vasopressin (VP) because of failure to accumulate cAMP and subsequent inability to form intramembranous particles on the apical (luminal) surface of kidney cells that normally respond to VP. The defect is primarily, if not exclusively, due to excessive activity of specific cAMP-phosphodiesterases. The abnormality can be overcome in vitro and in vivo by the phosphodiesterase inhibitor, rolipram. Most cases of hereditary NDI in man have sex-linked recessive inheritance, which appears to be due to an abnormality of the V2 receptor. The chromosomal locus of the defect is Xq28. Sporadic cases of congenital NDI have been described in females who appear to have a defect beyond the V2 receptor and the guanine nucleotide-binding stimulatory protein. There is no information on the biochemical defect in very rare cases with other types of inheritance patterns. No abnormalities of V1a and V1b receptor function have been found in patients with NDI. Mice and patients with NDI have evidence of increased AVP synthesis. AVP release in relation to plasma osmolality is increased in patients during infusion of hypertonic saline. This is the opposite of what has been described in patients with primary polydipsia (dipsogenic diabetes insipidus) who are chronically overhydrated. Together, these studies indicate that chronic dehydration and overhydration can cause up- and downregulation of the osmotic release of AVP.

Animals↗