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At least 937 records · Page 52Linked to original sources
PubMed1998

Ocular anomalies in the branchio-oculo-facial syndrome.

PURPOSE: To describe the ocular anomalies in two cases of branchio-oculo-facial syndrome (BOFS). METHODS: Two cases of BOFS are reviewed. RESULTS/CONCLUSIONS: Branchio-oculo-facial syndrome is a rare branchial cleft syndrome that is characterized by a typical facial appearance of pseudo-cleft or cleft lip, subauricular branchial sinuses, deafness and ocular anomalies, which include nasolacrimal obstruction, telecanthus and colobomata. It has an autosomal dominant inheritance pattern.

Branchio-Oto-Renal Syndrome↗
PubMed1999

Inhibition of intimal lipid deposition in human apolipoprotein A1 transgenic mice.

1. Southern blot confirmed the emergence of the human apolipoprotein A1 (h-apoA1) gene (four to 15 copies) in newborn transgenic mice. The inheritance pattern of h-apoA1 transgene in three generations of progeny was compatible with a single autosomal integration site. 2. Northern blot showed h-apoA1 mRNA expressed mainly in liver, kidney and aorta. The total plasma apoA1 (murine plus human) level was significantly increased to 58 and 118 in transgenic mice without or under zinc induction, respectively. The majority was h-apoA1. Plasma lecithin:cholesterol acyltransferase activity was positively correlated with h-apoA1 levels in transgenic mice (r = 0.43; P < 0.01). 3. After a high cholesterol intake for 14 weeks, the incidence of fatty streak at the aortic sinus was 40% in transgenic mice and 80% in controls. Expression of platelet-derived growth factor-B, c-myc and c-fos proteins was much weaker in smooth muscle cells at the aortic sinus in transgenic mice.

Animals↗
PubMed2000

Nocturnal enuresis: what is happening?

Primary nocturnal enuresis is common and has considerable psychological ramifications for children as they get older. It is a familial condition with complex inheritance patterns. The pathophysiology of the condition appears to be related to poor arousal from sleep, nocturia due to deficient vasopressin release in sleep and possibly a decrease in functional bladder capacity especially at night. The mainstay of treatment is the bed-wetting alarm. In recent years, desmopressin nasal spray has found a clinical niche as a short-term solution for children attending school camps or sleeping over at friends' houses and as treatment in the medium term for those unresponsive to treatment with a bed-wetting alarm. It may also be used as an adjunct to the use of the alarm. Treatment with imipramine is increasingly in disfavour because the relapse rate is unacceptably high and fatal overdose is a real possibility.

Child↗
PubMed2003

Ataxia and male sterility (AMS) mouse. A new genetic variant exhibiting degeneration and loss of cerebellar Purkinje cells and spermatic cells.

We describe a novel genetic variant mouse that exhibited ataxia and male sterility, named the AMS mouse. It arose in autoimmune-prone MRL/lpr strain and putative ams mutation showed an autosomal recessive inheritance pattern. Clinical symptoms were first discernible at approximately 21 days of age and consisting of subtle sway of the trunk followed by failure to maintain still posture and appearance of abnormal walk, but no further worsening was noted with advancement of age. The abnormal motor coordination was ascribed to almost complete loss of Purkinje cells of the cerebellum. The cell loss in the Purkinje cell layer began before onset of ataxia and rapidly progressed towards near-complete loss by 6 weeks of age. Another symptom was male sterility due to severe oligozoospermia associated with cellular degeneration during spermatic differentiation in the seminiferous tubules. Thus, the effects of the genetic variation were apparent in two different organs after the development of their basic histological structures, and degeneration and loss of particular cell types in these two tissues produced overt clinical symptoms. Genetic pleiotropism, provided that the nature of genetic variation is of a single gene mutation, is discussed.

Animals↗
PubMed2002

Functional characterization of compound heterozygosity for GlyRalpha1 mutations in the startle disease hyperekplexia.

The human disease hyperekplexia is characterized by excessive startle reactions to auditory and cutaneous stimuli. In its familial form, hyperekplexia has been associated with both dominant and recessive mutations of the GLRA1 gene encoding the glycine receptor alpha1 subunit (GlyRalpha1), which mediates inhibitory transmission in the spinal cord and brainstem. Here we have examined the functional consequences of two amino acid substitutions found in a compound heterozygous family, R252H and R392H, to investigate the mechanisms determining this inheritance pattern. When expressed in Xenopus laevis oocytes, both mutations were non-functional. Neither mutant affected the electrophysiological properties of wild type GlyRalpha1 when co-expressed. We introduced a green fluorescent protein tag to mutant subunits and found that both mutant proteins were detectable. Evidence that subcellular localization differed from wild type was significant for one of the mutants. Thus, an effective loss of functional GlyRalpha1-mediated current underlies hyperekplexia in this family, whereas a partial loss is asymptomatic.

Animals↗
PubMed1999

Identification and characterisation of polymorphisms in human phosphoglucomutase (PGM1).

This study is part of our effort to map recombination hotspots in two regions (site A, 18 kb; site B, 40 kb) of the human phosphoglucomutase PGM1 gene. Twenty-two PCR amplified fragments comprising six groups, covering about 5.2 kb, were screened for single nucleotide polymorphisms (SNPs) using non-isotopic single stranded conformation polymorphism (SSCP) analysis. Fourteen fragments were variable and seven of these showed common polymorphism. Our strategy for screening for polymorphic sites in the PGM1 gene was based on the results of allelic association analysis between each new marker and the sites of the classical isozyme polymorphism (2/1 in exon 4 and +/- in exon 8). Samples from four populations (Caucasian, Chinese, Vietnamese and New Guinean) were typed for each of the seven polymorphic markers. Between two and four common alleles were found in each case, together with a few rare alleles. Co-dominant inheritance patterns were demonstrated by family studies. The molecular basis of each new marker was determined by direct sequencing of the PCR products: most were SNPs except two that were small insertions/deletions. Direct sequence analysis of a 2.1 kb segment in sixteen individuals revealed no additional nucleotide variation indicating a very high level of efficiency of the SSCP screening method used in this study. The overall nucleotide diversity (theta) for PGM1 was estimated as 0.9 x 10(-3) based on 33 segregating sites in a sequence of 5187 nt and a sample size of 614 individuals.

Alleles↗
PubMed2003

Congenital talipes equinovarus (clubfoot): a disorder of the foot but not the hand.

Idiopathic (non-syndromic) congenital talipes equinovarus, or clubfoot, is a poorly understood but common developmental disorder of the lower limb, which affects at least 2 per 1000 Scottish births (ISD data). It is defined as a fixation of the foot in a hand-like orientation--in adduction, supination and varus--with concomitant soft tissue abnormalities. Despite advances in treatment, disability often persists. The aetiology of the condition has been little studied and is poorly understood. Neurological, muscular, bony, connective tissue and vascular mechanisms have been proposed, but the only firm evidence is that the mildest cases appear to be associated with intra-uterine posture. There is evidence for a genetic contribution to congenital talipes equinovarus aetiology. Its incidence varies with ethnic group, and we found that a family history is present in 24-50% of cases, depending on the population studied. Complex segregation analysis suggests that the most likely inheritance pattern is a single gene of major effect operating against a polygenic background. Possible mechanisms for congenital talipes equinovarus are discussed.

Amniocentesis↗
PubMed1999

Compound heterozygosity for novel splice site mutations in the BPAG2/COL17A1 gene underlies generalized atrophic benign epidermolysis bullosa.

Generalized atrophic benign epidermolysis bullosa, GABEB (OMIM# 226650), is a nonlethal variant of epidermolysis bullosa with autosomal recessive inheritance pattern. The pathogenesis of this disorder can be caused by mutations affecting two different gene/protein systems. Most of the mutations have been identified in the BPAG2/COL17A1 gene encoding a hemidesmosomal transmembrane protein, the 180 kDa bullous pemphigoid antigen (BP180), also known as type XVII collagen. The minority of the mutations are localized in the LAMB3 gene encoding the beta3 polypeptide of laminin 5. In In this study we describe a GABEB patient who showed absent expression of BP180 in the cultured keratinocytes as well as in the skin. The patient was a compound heterozygote for two different splice site mutations, 3053-1G-->C and 3871+1G-->C, affecting the extra-cellular domain of the protein. These mutations resulted in multiple aberrant splice variants, three of them causing premature termination codons for translation. This case, dealing with out-of-frame splice site mutations in BPAG2/COL17A1, attests to the molecular heterogeneity of GABEB.

Adult↗
PubMedDate not supplied

Familial cutaneous mastocytosis.

Cutaneous mastocytosis appears to occur sporadically; however, familial inheritance has been reported in 50 families since the mid-1880s. We report four cases of telangiectasia macularis eruptiva perstans (TMEP) occurring in three generations of a family. Whereas most patients with TMEP manifest in adulthood, all of the members of this family developed initial lesions during childhood. This is the third documented instance of familial mastocytosis affecting members of three generations, and the first report of familial TMEP. Although the inheritance pattern is unknown, the presentation of disease in this family further supports the hypothesis of an autosomal dominant mode of transmission with incomplete penetrance.

Adult↗
PubMedDate not supplied

Olmsted syndrome: the clinical spectrum of mutilating palmoplantar keratoderma.

Olmsted syndrome is a rare variety of transgredient palmoplantar keratoderma with an undefined inheritance pattern. It starts in the neonatal period or in childhood and has a progressive and extremely disabling course. We report two new, unrelated patients with Olmsted syndrome, one with the early signs and symptoms of the disorder, the other showing the full-blown spectrum of the syndrome during a 30-year follow-up period.

Amputation, Surgical↗
PubMed2003

Familial neck-tongue syndrome.

Neck-tongue syndrome is an uncommon clinical entity characterized by brief attacks of intense unilateral stabbing pain in the upper neck or occipital region upon sudden rotation of the head, accompanied by ipsilateral numbness of the tongue. Eight patients, 5 teenagers and 3 adults, with neck-tongue syndrome are presented. Each of the 5 adolescents had normal examinations and normal neuroimaging. The 3 adults were parents of the affected children and had experienced transient symptoms during their adolescence suggesting an autosomal dominant inheritance pattern.

Adolescent↗
PubMed2000

Familial interstitial nephritis with progressive renal failure.

We describe a 53-year-old woman with chronic interstitial nephritis and asymptomatic impairment of renal function. Seven members of her family were suffering from renal failure and underwent hemodialysis. At the time of their hospital admissions, they had shown evidence of end-stage renal failure at 40 to 50 years of age. Lack of proteinuria, hematuria, hypertension, hyperuricemia, hearing loss, and visual impairment were present before the deterioration of the renal function. Renal biopsy of the presented case indicated chronic interstitial nephritis without glomerular basement membrane abnormalities. Progressive decline of renal function and the inheritance pattern of autosomal dominance in this family suggested the diagnosis of familial interstitial nephritis.

Female↗
PubMed2002

A syndrome of hereditary pancreatic adenocarcinoma and cysts of the liver and kidneys.

Pancreatic adenocarcinoma is the fifth leading cause of cancer death in developed countries. Several family and population studies have suggested that there is a genetic predisposition in about 10% of cases. Despite this, pedigrees showing a definite Mendelian inheritance pattern are quite rare. Recently, a family came to our attention with several cases of pancreatic adenocarcinoma. A detailed family medical history was obtained from the index patient. Medical records, including death certificates, histopathology, radiology, and laboratory reports from several family members were reviewed. Computerized tomography scans and CA19-9 serum assays were performed on selected family members. The family seems to have a syndrome of autosomal dominant adenocarcinoma of the pancreas, accompanied by multiple cysts of the liver and kidneys. Affected family members without pancreatic cancer have elevated serum CA19-9 levels. This seems to be a previously undescribed syndrome. The family may be carrying a tumor suppressor gene mutation specific for pancreatic adenocarcinoma.

Adenocarcinoma↗
PubMed2000

Sudden cardiac death owing to pseudoxanthoma elasticum: a case report.

A 26-year-old woman collapsed and died suddenly while dancing. Autopsy findings included the cutaneous lesions of pseudoxanthoma elasticum (PXE), a rare genetic disease with autosomal dominant and recessive inheritance patterns. Pathologic findings of PXE (degenerated elastic fibers) were seen in the stenotic epicardial coronary arteries, the intramyocardial arterioles, the subendocardium, the mitral valve, and the blood vessels of other viscera. The mitral valve was slightly myxoid. Intramyocardial arteriolar involvement has not been previously described in PXE. The other cardiac findings have only been described in a few cases. Although mitral valve prolapse in PXE has been shown echocardiographically, it is unclear whether or not the mitral valve findings in this case represent the substrate for this condition. It is important that autopsy pathologists search carefully for the pathognomonic skin lesions of PXE in cases of sudden death associated with coronary disease, mitral valve prolapse, or endocardial lesions. Recognition of this disease is essential for proper genetic counseling of surviving family members.

Adult↗
PubMed2005

Genetics of hereditary colorectal cancer.

Genetic factors can dramatically influence the risk of colorectal cancer, and the molecular bases of many hereditary colorectal cancer syndromes, including familial adenomatous polyposis (FAP), attenuated FAP (AFAP), and hereditary nonpolyposis colorectal cancer (HNPCC) have been elucidated. Additional syndromes continue to be defined as new genes, including MYH , are linked to the development of colonic polyps and cancer. The risks of colorectal cancer are variable and depend on the specific germline alterations. Some mutations are associated with a 100% lifetime risk of developing cancer, while others are associated with only a mild increase in risk. Although there are overlapping clinical features in many of these syndromes, they can be distinguished by the age at cancer diagnosis, inheritance pattern, number and distribution of polyps, specific histologic features of the cancers, and the presence of distinctive extracolonic features. The introduction and refinement of genetic testing has provided a new and invaluable tool for the diagnosis and assessment of cancer risk for suspected cases of hereditary colon cancer.

Adenomatous Polyposis Coli↗
PubMed2001

An introduction: oxidative phosphorylation diseases.

Oxidative phosphorylation (OXPHOS) is responsible for producing much of the adenosine triphosphate that is required by cells. The OXPHOS pathway incorporates over 100 polypeptides whose genes are located in either the nuclear DNA or the mitochondrial DNA (mtDNA). The expression of these genes and the assembly of the five OXPHOS enzyme complexes (complexes I to V) is a highly ordered and coordinated process. A broad array of human diseases result from mutations in either the nuclear or mtDNA genes or even in the systems that coordinate their interactions. Consequently, OXPHOS diseases can have complex inheritance patterns and a wide spectrum of clinical presentations.

Education, Medical, Continuing↗
PubMed2004

A novel nonsense mutation in GCK exon 9 co-segregates with diabetes phenotype.

Maturity-onset diabetes of the young is an autosomal dominant form of non-insulin dependent diabetes mellitus and is caused by mutations in at least six different genes. In the most common forms, i.e. MODY2 and MODY3, the glucokinase (GCK) and the hepatocyte nuclear factor (HNF)-1alpha gene is affected, respectively. We have screened the GCK gene and HNF-1alpha gene by direct sequencing in three German families with early onset type-2-diabetes, possibly MODY. Next to known polymorphisms we have identified two novel intronic insertions in GCK and a novel non-sense mutation in exon 9 (C364 X). The latter mutation has an autosomal dominant inheritance pattern. Accordingly, this novel mutation segregates with diabetes phenotype in this family.

Animals↗
PubMed2006

Diagnosis of inherited von Willebrand disease: a clinical perspective.

von Willebrand disease (VWD) is the most frequent inherited disorder of hemostasis and is due to quantitative (types 1 and 3) or qualitative (type 2) defects of von Willebrand factor (VWF). Due to the large heterogeneity of VWF defects and to the external variables influencing VWF levels in the circulation, VWD diagnosis can be difficult, especially in relatively mild forms. Three criteria should be always satisfied for a correct VWD diagnosis: (1) a positive bleeding history since childhood; (2) reduced levels of VWF activity in plasma; and (3) autosomal dominant or recessive inheritance patterns within the family (in most cases). According to clinical prospective studies, a bleeding history in VWD patients should be derived from a detailed questionnaire, with calculated bleeding scores. The ristocetin cofactor activity is the most useful test for VWD screening in the general population because it reproduces in vitro the first VWF interactions with its platelet receptor; however other assays are required to identify and classify VWD types. The current classification (types 1, 2A, 2B, 2M, 2N, and 3) is important to understand the basic mechanisms of VWF defects, to determine the risk of bleeding, and to select the best therapeutic approach. Molecular screening can be important to confirm phenotypic diagnosis for tracking VWF defects within families. Compared with hemophilia, most VWD patients show relatively mild bleeding symptoms. Therefore, prenatal diagnosis is required only for women already known to be carriers of VWD type 3. No spontaneous bleedings usually occur at birth in severe type 3 VWD. Neonatal diagnosis of VWD should always be compared with other affected members within the same family. Given that young children with VWD type 3 might carry deletions of VWF gene that predispose to the alloantibodies to VWF, every new child with VWD type 3 should be investigated intensively for VWF gene deletions before starting extensive therapy with exogenous VWF concentrates.

Child↗