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PubMed2004

Lonely in Paris: when one gene copy isn't enough.

Circulating platelets are continually replenished by fragmentation of terminally differentiated megakaryocytes. Processes disrupted in inherited thrombocytopenias frequently shed light on normal thrombopoietic mechanisms. An especially rare condition called Paris-Trousseau syndrome (PTS) seems to occur by virtue of hemizygous loss of the FLI1 transcription factor gene. Provocative new data suggest that FLI1 shows monoallelic expression during a brief window in megakaryocyte differentiation, which thus explains the dominant inheritance pattern of PTS despite the presence of one normal FLI1 allele.

Cell Differentiation↗
PubMed1996

Anticipation in schizophrenia: new light on a controversial problem.

OBJECTIVE: Anticipation, recently found in several neuropsychiatric disorders, is an inheritance pattern within a pedigree in which disease severity increases or age at onset decreases in successive generations. Demonstration of genetic anticipation in schizophrenia could be of heuristic value, since unstable trinucleotide repeat DNA is known to be the biological basis of anticipation. However, to overcome one of the major ascertainment biases that might mimic anticipation--namely, the fact that patients in different generations are not interviewed at the same age, resulting in a greater chance of finding a later age at onset in the older generation--a new method of investigating anticipation was used. METHOD: The study subjects were 97 systematically ascertained schizophrenic patients belonging to 24 families with at least two generations affected who were identified during a 1-year prevalence study in a limited geographical area of Reunion Island (Indian Ocean). A method of calculating expected age at onset according to age at interview was used in the analyses. RESULTS: In the younger generation of patients, the observed age at onset (21.80 years) was earlier than the expected age at onset (24.95 years), demonstrating anticipation, even when five additional biases that can mimic this genetic effect--the proband effect, the presence of an affected father or mother, the bilineality of the illness, the fertility effect, and the cohort effect--were taken into account. CONCLUSIONS: Evidence for anticipation was demonstrated in this group of schizophrenic patients. This may help the search for pathological genes implicated in the genesis of schizophrenia.

Adult↗
PubMedDate not supplied

Cardiomyopathy and atrioventricular block in Emery-Dreifuss muscular dystrophy--a case report.

A 32-year-old woman is described as having the following characteristics of Emery-Dreifuss muscular dystrophy: humeroperoneal muscular atrophy and weakness, neck and elbow contractures with sinus bradycardia, first-degree atrioventricular block, and dilated cardiomyopathy. The biopsy specimen of skeletal muscle showed dystrophic character; a cardiac endomyocardial biopsy specimen showed adipose tissue infiltration and deposition of antihuman IgG. Emery-Dreifuss muscular dystrophy is an X-linked recessive myopathy. The patient had no familial background of the disease. This patient might have a sporadic inheritance pattern with severe cardiac involvement.

Adult↗
PubMed1993

Diffuse arterial aneurysms in a case of Ehlers-Danlos syndrome--a case report.

A three-year-old boy with the diagnosis of Ehlers-Danlos syndrome (EDS) with persistent ductus arteriosus and multiple diffuse arterial aneurysms is presented. The case is classified as "EDS type unknown" because the clinical features and the inheritance pattern differ from the types described previously. It is stressed that the diagnosis of the disease is important for genetic counseling and surgical intervention.

Abnormalities, Multiple↗
PubMed2005

Hereditary congenital unilateral deafness: a new disorder?

Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral deafness must have a lower prevalence. The purpose of this research was to present a new disorder, hereditary congenital unilateral deafness. A pedigree is presented in which both male and female members display symptoms of congenital unilateral deafness. Two affected persons and a normal-hearing member of the family have vestibular abnormalities without dysequilibrium. The inheritance pattern of this new syndrome is not clear. We hypothesize that the disorder might be new. A family like this has never before been presented in the medical literature.

Adult↗
PubMed1987

Congenital absence of lacrimal puncta and of all major salivary glands: case report and literature review.

A 7-year-old girl had dry mouth and recurrent infections of the lacrimal fistulae with decreased lacrimal secretion. All four puncta were absent, and a Schirmer test showed decreased lacrimal secretion. Salivary gland imaging with sodium pertechnetate 99mTcO4 showed absence of all major salivary glands. Lower lip biopsy disclosed normal structure of the salivary gland. No evidence of abnormal inheritance patterns could be demonstrated.

Abnormalities, Multiple↗
PubMed2000

Detection of a novel mutation in X-linked amelogenesis imperfecta.

Amelogenesis imperfecta (AI) is a heterogeneous group of inherited disorders of defective enamel formation. The major protein involved in enamel formation, amelogenin, is encoded by a gene located at Xp22.1-Xp22.3. This study investigated the molecular defect producing a combined phenotype of hypoplasia and hypomineralization in a family with the clinical features and inheritance pattern of X-linked amelogenesis imperfecta (XAI). Genomic DNA was prepared from buccal cells sampled from family members. The DNA was subjected to the polymerase chain-reaction (PCR) in the presence of a series of oligonucleotide primers designed to amplify all 7 exons of the amelogenin gene. Cloning and sequencing of the purified amplification products identified a cytosine deletion in exon VI at codon 119. The deletion resulted in a frameshift mutation, introducing a premature stop signal at codon 126, producing a truncated protein lacking the terminal 18 amino acids. Identifying mutations assists our understanding of the important functional domains within the gene, and finding another novel mutation emphasizes the need for family-specific diagnosis of amelogenesis imperfecta.

Amelogenesis Imperfecta↗
PubMed1991

Vestibular and postural findings in the motion sickness syndrome.

The motion sickness syndrome constitutes varying degrees of subjective motion intolerance and three objective findings: hyperactive VOR (79%), hip sway strategy (60%), and positional nystagmus (42%). It is present in subjects who have a strong history of motion sickness. Vestibular rehabilitation appears to help control symptoms. The study also suggests an inheritance pattern, but a structured pedigree could not be constructed. Prospective studies are warranted to further establish the patterns of the motion sickness syndrome.

Adolescent↗
PubMed2026

A compound heterozygous combination of SLC34A2 variants in pulmonary alveolar microlithiasis: A case report and literature review.

Pulmonary Alveolar Microlithiasis (PAM) is a rare hereditary lung disorder characterized by the intra-alveolar deposition of calcium phosphate microliths. It is primarily familial and follows an autosomal recessive inheritance pattern, with no significant gender disparity in incidence. In its early stages, PAM is often asymptomatic, and most cases are detected incidentally through abnormal imaging findings during routine health examinations. We report a case of a male patient in his mid-50 s with a 10-year history of exertional dyspnea and cough unresponsive to conventional therapy. Initially diagnosed and treated for emphysema in early 2024, the patient was readmitted two months later with progressive dyspnea and cyanosis. The diagnosis of PAM was confirmed by typical medical imaging and pathological examination. Genetic analysis identified a previously unreported compound heterozygous combination of SLC34A2 variants: a c.910A > T (p.Lys304*) nonsense variant in exon 8 and a heterozygous ∼5.5 kb copy-number deletion at 4p15.2 (encompassing exons 2-6), thereby expanding the catalogue of reported PAM-associated genetic combinations. No recurrence was observed during one-year follow-up after bilateral lung transplantation.

Humans↗
PubMed2002

The poisoning women of Tiszazug.

This article examines the social causes of the infamous Tiszazug murders (i.e., the poisoning of more than forty people, mainly men, by their female relatives) in interwar Hungary. First, it looks at those elements in peasant culture, such as the traditional neglect of the sick elderly and the disabled, which proved conducive to a violent solution of family problems. Then, the essay analyzes the changes in family structures and inheritance patterns and discusses the impact of political events such as the end of overseas migration, the dissolution of the Austro-Hungarian Empire, the autarchic policies of the "successor states" and the failure of land reform on peasants' lives. Finally, the article looks at the discovery of the murders and the peasants' interpretations of the poisonings.

Crime↗
PubMed1994

Inherited epilepsies of childhood.

Recent advances in neuroepidemiologic and molecular biological techniques have facilitated a growing understanding of the role that inherited factors play in epileptogenesis. During the last few years linkage analysis has mapped gene loci associated with the following epilepsy syndromes: benign familial neonatal convulsions, juvenile myoclonic epilepsy, Unverricht-Lundborg/Baltic/Mediterranean progressive myoclonic epilepsies, the juvenile form of ceroid lipofuscinosis, sialidosis I, and the myoclonus epilepsy with ragged red fibers (MERRF) syndrome. In addition, characterization of the inheritance patterns of other syndromes such as childhood epilepsy with occipital paroxysms and febrile convulsions has improved. It is apparent that a significant amount of clinical and genetic heterogeneity exists, which emphasizes the importance of accurate clinical classification. As genetic markers are found for well-defined groups of patients, traditional means of classification (seizure type, pathologic markers, progressive course, etc.) become less meaningful. It is proposed that the components of the phenotype of an epilepsy syndrome (eg, age of onset, seizure type, electroencephalographic pattern) may be controlled by multiple genes.

Adolescent↗
PubMed1996

Familial dystonia and choreoathetosis in three generations associated with bilateral striatal necrosis.

Nine cases of dystonia and choreoathetosis (six females and three males) have developed in three generations of a single family. There has been one death. Neuropathologic examination disclosed bilateral striatal necrosis. In this family, the neurologic disorder has evolved gradually or in association with a febrile illness. There has been no neurologic recovery. The disease is worse in females, has been transmitted only through females, and shows incomplete penetrance and anticipation. The maternal inheritance pattern suggests either an autosomal dominant trait also affecting male reproductive ability or a defect involving the mitochondrial genome.

Adult↗
PubMed1998

Genetic epidemiology of Parkinson's disease.

The cause of Parkinson's disease (PD) is unknown. The major risk factors identified to date are family history, age, and elements of rural living. Nearly one-third of all PD cases are familial, a small subset of which appears autosomal dominant; however, the majority exhibit no clear inheritance pattern. Autosomal dominant PD is genetically heterogeneous: two PD genes have been mapped to chromosomes 2 and 4 and there may be additional as yet unidentified genes. The common forms of PD-both familial and sporadic cases-appear to involve a complex interplay of genetic susceptibility and environmental exposure. The observations that rural residence and pesticide exposure increase the risk of developing PD, and that a synthetic drug, 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine, can cause parkinsonism, suggest that at least a subset of PD may be caused by a toxin. Furthermore, modest but significant associations have been reported between PD susceptibility and genes that regulate metabolism of drugs and neurotoxins. There is also evidence for mitochondrial dysfunction in PD, a finding that was recently traced to anomalies in mitochondrial DNA. At the present time, the genetics of PD appear to be complex, involving multiple nuclear genes and possibly mitochondrial genes as well.

Aged↗
PubMed1998

Geneticists share the family jewels: how inbreeding has contributed to understanding hereditary skin disease.

BACKGROUND: Offspring resulting from consanguineous marriages have been important in advancing research in genodermatoses. OBJECTIVE: The concepts of consanguinity and inbreeding are reviewed and their contributions to research in hereditary skin diseases explained. METHODS: Examples are given in which inbred individuals with hereditary skin disease have increased our knowledge of skin disease genetics. RESULTS: An enhanced understanding of the genetics of xeroderma pigmentosum, lamellar ichthyosis, and Werner's syndrome, among others, has arisen from the observation of populations and families in which inbreeding has occurred. CONCLUSION: Populations practicing inbreeding and consanguineous marriages in generally outbred populations have provided important observations for determining the inheritance pattern of several genodermatoses and for identifying the responsible genes.

Consanguinity↗
PubMed2001

Inheritance of resistance to promotion of preneoplastic liver lesions in Copenhagen rats.

Previously, we have shown that Copenhagen (Cop) rats are highly resistant to the induction of putative preneoplastic, glutathione S-transferase 7-7- (GST 7-7) positive liver lesions following treatment with a modified resistant hepatocyte (RH) protocol. The objective of this study was to determine if resistance is inherited in a dominant or recessive manner and to derive an estimate of the number of genetic loci involved. We crossed male and female Cop rats with F344 rats to produce F1 offspring. Backcross rats were generated using female F1 rats and either Cop or F344 males, resulting in B1c and B1f generations, respectively. The male rats from all these crosses were initiated with diethylnitrosamine (200 mg/kg) at 7 to 8 weeks of age and were promoted 3 weeks later with the RH protocol (2-acetylaminofluorene and a two-thirds partial hepatectomy). The rats were sacrificed 3 weeks after the partial hepatectomy and their livers were sectioned and stained for GST 7-7-positive lesions. The susceptibility of F1 rats was in between Cop and F344 rats, having 21.7% +/- 2.0% (mean +/- SEM) of their liver volume occupied by lesions versus 4.2% +/- 0.8% for Cop and 53.0% +/- 5.8% for F344 rats. As expected, B1c rats had a volume of liver occupied by lesions that was in between the F1 and Cop rats at 13.5% +/- 1.6%. Surprisingly, B1f rats were similar to B1c rats in their resistance (9.1% +/- 2.1%). These results point to a complex, polygenic inheritance pattern that can be explained by a minimum of four loci, one of which shows recessive epistasis.

Animals↗
PubMed2002

A hereditary bleeding disorder of dogs caused by a lack of platelet procoagulant activity.

We have discovered a novel canine hereditary bleeding disorder with the characteristic features of Scott syndrome, a rare defect of platelet procoagulant activity. Affected dogs were from a single, inbred colony and experienced clinical signs of epistaxis, hyphema, intramuscular hematoma, and prolonged bleeding with cutaneous bruising after surgery. The hemostatic abnormalities identified were restricted to tests of platelet procoagulant activity, whereas platelet count, platelet morphology under light microscopy, bleeding time, clot retraction, and platelet aggregation and secretion in response to thrombin, collagen, and adenosine diphosphate stimulation were all within normal limits. Washed platelets from the affected dogs demonstrated approximately twice normal clotting times in a platelet factor 3 availability assay and, in a prothrombinase assay, generated only background levels of thrombin in response to calcium ionophore, thrombin, or combined thrombin plus collagen stimulation. While platelet phospholipid content was normal, flow cytometric analyses revealed diminished phosphatidylserine exposure and a failure of microvesiculation in response to calcium ionophore, thrombin, and collagen stimulation. Pedigree studies indicate a likely homozygous recessive inheritance pattern of the defect. These findings confirm the importance of platelet procoagulant activity for in vivo hemostasis and provide a large animal model for studying agonist-induced signal transduction, calcium mobilization, and effector pathways involved in the late platelet response of transmembrane phospholipid movement and membrane vesiculation.

Animals↗
PubMed2005

Linkage analysis of alcohol dependence using both affected and discordant sib pairs.

The basic idea of affected-sib-pair (ASP) linkage analysis is to test whether the inheritance pattern of a marker deviates from Mendelian expectation in a sample of ASPs. The test depends on an assumed Mendelian control distribution of the number of marker alleles shared identical by descent (IBD), i.e., 1/4, 1/2, and 1/4 for 2, 1, and 0 allele(s) IBD, respectively. However, Mendelian transmission may not always hold, for example because of inbreeding or meiotic drive at the marker or a nearby locus. A more robust and valid approach is to incorporate discordant-sib-pairs (DSPs) as controls to avoid possible false-positive results. To be robust to deviation from Mendelian transmission, here we analyzed Collaborative Study on the Genetics of Alcoholism data by modifying the ASP LOD score method to contrast the estimated distribution of the number of allele(s) shared IBD by ASPs with that by DSPs, instead of with the expected distribution under the Mendelian assumption. This strategy assesses the difference in IBD sharing between ASPs and the IBD sharing between DSPs. Further, it works better than the conventional LOD score ASP linkage method in these data in the sense of avoiding false-positive linkage evidence.

Alcoholism↗
PubMed2004

Identification of "pathologs" (disease-related genes) from the RIKEN mouse cDNA dataset using human curation plus FACTS, a new biological information extraction system.

BACKGROUND: A major goal in the post-genomic era is to identify and characterise disease susceptibility genes and to apply this knowledge to disease prevention and treatment. Rodents and humans have remarkably similar genomes and share closely related biochemical, physiological and pathological pathways. In this work we utilised the latest information on the mouse transcriptome as revealed by the RIKEN FANTOM2 project to identify novel human disease-related candidate genes. We define a new term "patholog" to mean a homolog of a human disease-related gene encoding a product (transcript, anti-sense or protein) potentially relevant to disease. Rather than just focus on Mendelian inheritance, we applied the analysis to all potential pathologs regardless of their inheritance pattern. RESULTS: Bioinformatic analysis and human curation of 60,770 RIKEN full-length mouse cDNA clones produced 2,578 sequences that showed similarity (70-85% identity) to known human-disease genes. Using a newly developed biological information extraction and annotation tool (FACTS) in parallel with human expert analysis of 17,051 MEDLINE scientific abstracts we identified 182 novel potential pathologs. Of these, 36 were identified by computational tools only, 49 by human expert analysis only and 97 by both methods. These pathologs were related to neoplastic (53%), hereditary (24%), immunological (5%), cardio-vascular (4%), or other (14%), disorders. CONCLUSIONS: Large scale genome projects continue to produce a vast amount of data with potential application to the study of human disease. For this potential to be realised we need intelligent strategies for data categorisation and the ability to link sequence data with relevant literature. This paper demonstrates the power of combining human expert annotation with FACTS, a newly developed bioinformatics tool, to identify novel pathologs from within large-scale mouse transcript datasets.

Animals↗