Meniere's Syndrome Inherited as an Autosomal Dominant Trait

1992 ◽  
Vol 101 (7) ◽  
pp. 590-594 ◽  
Author(s):  
Carlos A. Oliveira ◽  
Ana Maria Braga
Keyword(s):  
Autosomal Dominant ◽  
Identical Twins ◽  
Dominant Trait ◽  
Close Attention ◽  
Autosomal Dominant Trait ◽  
Genetic Transmission ◽  
Autosomal Dominant Transmission ◽  
Migraine Headaches ◽  
Family Histories ◽  
The Family

Brown in 1941 reported on five families having two members with Meniere's syndrome. In 1949 she reported on three siblings (children of first cousins) and two identical twins bearing the syndrome. Bernstein in 1965 reported on seven families having two or more members afflicted by the symptoms. All these reports showed association between Meniere's syndrome and migraine headaches. None provided detailed pedigree studies in order to clarify the mode of genetic transmission. We report on a father, three daughters, and one son with typical Meniere's syndrome and paroxysmal headaches. The pedigree strongly suggests autosomal dominant transmission. After studying this family we have been paying close attention to family histories of Meniere's syndrome patients. It is not at all uncommon to hear about other members of the family with the syndrome, but it is difficult to document all of the cases for logistical reasons.

scholarly journals Hereditary Opalescent Dentin: A Report of Two Cases

2010 ◽  
Vol 11 (4) ◽  
pp. 49-55
Author(s):  
Siddharth Gupta ◽  
Rahul R. Bhowate ◽  
Ashok Bhati
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Dominant ◽  
Type I ◽  
Type Ii ◽  
Dentinogenesis Imperfecta ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Radiographic Findings ◽  
The Family ◽  
Separate Clinical Entity

Abstract Aim The aim of this case report is to present the clinical and radiographic findings of hereditary opalescent dentin to facilitate an early diagnosis. Background Hereditary opalescent dentin (or dentinogenesis imperfecta) may manifest itself in three variations: i.e., Shields type I, Shields type II, and Shields type III. Dentinogenesis imperfecta occurs as an autosomal dominant trait with variable expressivity, either in presence with osteogenesis imperfecta or as a separate clinical entity in persons who have none of the features of osteogenesis imperfecta. Case Descriptions A seven-year old boy and his mother were both diagnosed with hereditary opalescent dentin. A review of the family dental history revealed that this condition affected not only the child's mother but his maternal grandfather and great grandfather. Both the son and the mother exhibited the same clinical and radiologic features as those reported previously with no evidence of osteogenesis imperfecta. Summary Being an autosomal disease, hereditary opalescent dentin runs in the family and can affect both the deciduous and permanent dentitions as a dominant trait. Clinical Significance Once a patient is diagnosed with hereditary opalescent dentin, other family members should be evaluated given the condition is hereditary. Citation Gupta S, Bhowate RR, Bhati A. Hereditary Opalescent Dentin: A Report of Two Cases. J Contemp Dent Pract [Internet]. 2010 July; 11(4):049-055. Available from: http://www. thejcdp.com/journal/view/volume11-issue4-gupta

scholarly journals Somatic and Germline Mosaicism for a Mutation of the PHEX Gene Can Lead to Genetic Transmission of X-Linked Hypophosphatemic Rickets That Mimics an Autosomal Dominant Trait

2006 ◽  
Vol 91 (2) ◽  
pp. 365-370 ◽  
Author(s):  
Katsumi Goji ◽  
Kayo Ozaki ◽  
Ahmad H. Sadewa ◽  
Hisahide Nishio ◽  
Masafumi Matsuo
Keyword(s):  
Autosomal Dominant ◽  
Molecular Genetic ◽  
Autosomal Dominant Inheritance ◽  
Hypophosphatemic Rickets ◽  
Nucleotide Sequencing ◽  
Dominant Inheritance ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Germline Mosaicism ◽  
Genetic Transmission

Context: Familial hypophosphatemic rickets is usually transmitted as an X-linked dominant disorder (XLH), although autosomal dominant forms have also been observed. Genetic studies of these disorders have identified mutations in PHEX and FGF23 as the causes of X-linked dominant disorder and autosomal dominant forms, respectively. Objective: The objective of the study was to describe the molecular genetic findings in a family affected by hypophosphatemic rickets with presumed autosomal dominant inheritance. Patients: We studied a family in which the father and the elder of his two daughters, but not the second daughter, were affected by hypophosphatemic rickets. The pedigree interpretation of the family suggested that genetic transmission of the disorder occurred as an autosomal dominant trait. Methods and Results: Direct nucleotide sequencing of FGF23 and PHEX revealed that the elder daughter was heterozygous for an R567X mutation in PHEX, rather than FGF23, suggesting that the genetic transmission occurred as an X-linked dominant trait. Unexpectedly, the father was heterozygous for this mutation. Single-nucleotide primer extension and denaturing HPLC analysis of the father using DNA from single hair roots revealed that he was a somatic mosaic for the mutation. Haplotype analysis confirmed that the father transmitted the genotypes for 18 markers on the X chromosome equally to his two daughters. The fact that the father transmitted the mutation to only one of his two daughters indicated that he was a germline mosaic for the mutation. Conclusions: Somatic and germline mosaicism for an X-linked dominant mutation in PHEX may mimic autosomal dominant inheritance.

Inherited Fibrinogen Abnormality Causing Thrombophilia

1967 ◽  
Vol 17 (01/02) ◽  
pp. 176-187 ◽  
Author(s):  
O Egeberg
Keyword(s):  
Autosomal Dominant ◽  
Normal Values ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Coagulation Defect ◽  
The Family ◽  
Coagulation Tests ◽  
High Incidence ◽  
The Difference ◽  
Thrombotic Tendency

SummaryA family with high incidence of thrombo-embolic diseases is described. Thromboses are reported from members of 3 generations, mostly as leg vein affections, frequently complicated with pulmonal embolism. The family is also known for epileptic manifestations.Investigations of affected members gave normal values for ordinary coagulation tests; procoagulant factor activities were found normal, and no systematic deficiencies in natural anticoagulants could be demonstrated. A tendency to short plasma thrombin times was, however, revealed. The difference between patients and normals could not be eliminated by Al(OH)3-adsorption of the plasmas, and it was still distinct when the plasmas were diluted in defibrinated normal plasma or in congenitally fibrinogen deficient plasma. Isolated fibrinogen from one of the patients gave markedly shortened thrombin times compared with normal fibrinogen. When test plasmas were heat-defibrinated and isolated normal fibrinogen added, no systematic differences in thrombin times between patients and normals could be found, while corresponding addition of patient’s fibrinogen gave shorter thrombin times.The results strongly support the explanation that the plasmas of the affected family members contain an abnormal fibrinogen, and that this protein defect is responsible for their thrombotic tendency.The possibility is considered that the epileptic manifestations in the family might also to some degree be precipitated by cerebral damage due to thrombo-embolic episodes.The coagulation defect seems to be inherited as an autosomal dominant trait.

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Complex Segregation Analysis of Thyroid Autoantibodies: Are They Inherited as an Autosomal Dominant Trait?

1993 ◽  
Vol 43 (3) ◽  
pp. 141-146 ◽  
Author(s):  
D.I.W Phillips ◽  
D.C. Shields ◽  
J.M. Dugoujon ◽  
L. Prentice ◽  
P. McGuffin ◽  
...  
Keyword(s):  
Segregation Analysis ◽  
Autosomal Dominant ◽  
Thyroid Autoantibodies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Complex Segregation Analysis

scholarly journals Marfan Syndrome with Atypical Presentation: A Case Report

2014 ◽  
Vol 4 (2) ◽  
pp. 111-114
Author(s):  
Sharmin Mahbuba ◽  
Fauzia Mohsin ◽  
Rubaiya Islam ◽  
Tahmina Begum
Keyword(s):  
Case Report ◽  
Marfan Syndrome ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Atypical Presentation ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excessive Sweating ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Marfan syndrome is an inherited connective tissue disorder that is transmitted as an autosomal dominant trait. These cases can be diagnosed by molecular cytogenetic techniques. A modified Ghent criteria using systemic scoring system can also identify these cases in absence of molecular cytogenetic techniques.We report a case of a 6 year 5 month old boy who presented with the complaints of excessive sweating sinceinfancy and protrusion of both eye balls which was non progressive since early childhood. On examination, some skeletal features of Marfan syndrome was found and echocardiogram showed huge dilatation of root of aorta which helped in diagnosis by scoring system.Birdem Med J 2014; 4(2): 111-114

THE ICHTHYOSIFORM DERMATOSES

PEDIATRICS ◽  
1968 ◽  
Vol 42 (6) ◽  
pp. 990-1004
Author(s):  
Nancy B. Esterly
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Investigation ◽  
Correct Diagnosis ◽  
Associated Anomalies ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Clinical Variants ◽  
Congenital Ichthyosiform Erythroderma ◽  
Mode Of Inheritance

The Term ichthyosis describes a group of heritable disorders which are characterized by cutaneous scaling. The visible scale differentiates these disorders from xeroderma in which the skin is dry but does not visibly desquamate. Many classifications of the ichthyoses have been proposed, but most are descriptive and contribute little to an understanding of etiology and pathogenesis. Often clinical variants or patients with minor associated anomalies have been categorized separately on an empirical basis and, in some cases, several names have been used for one entity to indicate severity of involvement. The most useful classification appears to be that of Wells and Kerr,1 who segregated the various types by their pattern of inheritance and retained the nomenclature in common usage. Differences in clinical features and histologic patterns also correlate with these genetically distinguishable types. Thus, with careful attention to the distribution and type of scale, family history, and skin histology, the physician will be able to classify patients in a meaningful way. Such an approach is helpful for several reasons. The prognosis, troublesome features, and degree of handicapping differ for the various ichthyoses. Sensible genetic counseling, an important part of the management of such patients, is possible only with the correct diagnosis. Moreover, clinical investigation of affected individuals will be further confused unless the entity under study is well defined. The need for an understanding of the physiologic and biochemical defects of ichthvotic skin is underscored by the limitations of currently available therapy. The four major types of ichthyosis include: (1) ichthyosis vulgaris, transmitted as an autosomal dominant trait; (2) sexlinked ichthyosis, transmitted as an Xlinked trait; (3) bullous congenital ichthyosiform erythroderma (CIE), inherited as an autosomal dominant trait; and (4) nonbulbus congenital ichthyosiform erythroderma, autosomal recessive mode of inheritance (Table I).

scholarly journals Advances in Treatment of ATTRv Amyloidosis: State of the Art and Future Prospects

2020 ◽  
Vol 10 (12) ◽  
pp. 952
Author(s):  
Massimo Russo ◽  
Luca Gentile ◽  
Antonio Toscano ◽  
M’Hammed Aguennouz ◽  
Giuseppe Vita ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Progressive Disease ◽  
Cardiac Involvement ◽  
Autosomal Dominant ◽  
State Of The Art ◽  
Multiple Organ ◽  
Regulatory Agencies ◽  
Motor Neuropathy ◽  
Dominant Trait ◽  
Autosomal Dominant Trait

Hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy is a progressive disease that is transmitted as an autosomal dominant trait and characterized by multiple organ failure, including axonal sensory-motor neuropathy, cardiac involvement, and autonomic dysfunction. Liver transplantation (LT) and combined heart–liver transplantation, introduced in the 1990s, have been the only therapies for almost two decades. In 2011, tafamidis meglumine became the first specific drug approved by regulatory agencies, since then the attention toward this disease has progressively increased and several drugs with different mechanisms of action are now available. This review describes the drugs already on the market, those that have shown interesting results although not yet approved, and those currently being tested.

scholarly journals Benign Familial Neonatal Convulsions

1982 ◽  
Vol 9 (3) ◽  
pp. 345-347 ◽  
Author(s):  
Otilia Dobrescu ◽  
Albert Larbrisseau
Keyword(s):  
Autosomal Dominant ◽  
Seizure Disorder ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Excellent Outcome ◽  
Three Generations ◽  
Neonatal Convulsions

SUMMARY:Benign familial neonatal convulsions are a rare genetic seizure disorder inherited as an autosomal dominant trait. They consist of brief episodes of seizures, recurring during the first few days or weeks of life in otherwise normal babies; their prognosis is good. We report a family in which at least 12 members in three generations presented with this condition; they all had an excellent outcome.

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