scholarly journals Autosomal Dominant Neurohypophyseal Diabetes Insipidus with Linkage to Chromosome 20p13 but without Mutations in the AVP-NPII Gene

2005 ◽  
Vol 90 (7) ◽  
pp. 4388-4393 ◽  
Author(s):  
Lei Ye ◽  
Xiaoying Li ◽  
Ying Chen ◽  
Hongtao Sun ◽  
Weiqing Wang ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Water Deprivation ◽  
Autosomal Dominant ◽  
Gene Mutations ◽  
Dominant Trait ◽  
Lod Score ◽  
Autosomal Dominant Trait ◽  
Enhancer Element ◽  
Vasopressin Precursor ◽  
Chromosome 20P13

Abstract Context: Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) has been known as a rare disorder transmitted as an autosomal dominant trait, characterized by polyuria and polydipsia, and caused by deficient neurosecretion of arginine vasopressin precursor (AVP-NPII). We reported an ADNDI family with linkage to chromosome 20p13 but without mutations in the AVP-NPII gene. Objective: The objective of this study was to identify the corresponding locus responsible for ADNDI in a family without AVP-NP II gene mutations. Subjects and Methods: Two families with ADNDI were diagnosed by water deprivation test. The AVP-NPII gene was amplified by PCR and sequenced. A genomewide scan was performed in one family using 400 microsatellite markers covering 22 autosomes. Results: A 3-bp deletion (1827–1829delAGG) of AVP-NPII gene was identified in the affected individuals in one family. Although no mutations could be detected in the coding, the promoter, and intronic regions of AVP-NPII gene in the other family, a maximum LOD score of 1.202999 (θ = 0.00) was obtained at marker D20S889 by genomewide scan, and a 7-cM interval on chromosome 20p13 was defined by fine mapping with markers D20S199–D20S849. Furthermore, the intragenic region that regulates AVP-NPII and oxytocin expression as an enhancer element and the UBCE7IP5 gene that participates in prohormone degradation were sequenced. No alterations could be detected either. Conclusion: The corresponding locus responsible for ADNDI is possibly heterogeneous regarding the slightly different clinical features in these two families.

Branchio-oto-renal syndrome

2015 ◽  
Author(s):  
Udo Vester ◽  
Stefanie Weber
Keyword(s):  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Renal Involvement ◽  
Gene Mutations ◽  
Branchial Arch ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Bor Syndrome ◽  
Ear Malformations ◽  
Ear Anomalies

Branchio-oto-renal (BOR) syndrome involves branchial arch fistulas or cysts, ear malformations with hearing loss, and anomalies of the kidney. BOR syndrome is inherited in an autosomal dominant trait and is caused in most cases by mutations in the EYA1 gene. A few families with gene mutations in SIX1 or SIX5 have also been described. The variability of clinical symptoms is wide. Renal involvement is observed in the majority of cases ranging from mild anomalies (e.g. dilation or duplication of the urinary tract) to severe hypodysplasia of the kidneys which eventually lead to renal failure. Branchio-otic syndrome (BOS) is characterized by branchial arch and ear anomalies without detectable renal pathology. BOR and BOS can be seen within the same family.

Two cases of hereditary diabetes insipidus, with an autopsy finding in one

1984 ◽  
Vol 105 (3) ◽  
pp. 318-323 ◽  
Author(s):  
Isamu Nagai ◽  
Ching Huai Li ◽  
Shao Ming Hsieh ◽  
Tomohiko Kizaki ◽  
Yoshinori Urano
Keyword(s):  
Diabetes Insipidus ◽  
Paraventricular Nucleus ◽  
Supraoptic Nucleus ◽  
Autosomal Dominant ◽  
Autopsy Finding ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Hereditary Diabetes ◽  
Immunohistochemical Studies ◽  
Hereditary Diabetes Insipidus

Abstract. Two cases of hereditary diabetes insipidus (DI) are described, with an autopsy finding in one. The patients were brothers and 7 other relatives had symptoms of DI. The transmission of the disease in this family seemed to be an autosomal dominant trait with incomplete penetration. Both patients had the incomplete type of DI, which is diagnosed by the response of plasma AVP and the change in Uosm/Posm to 14 h water deprivation. The post-mortem examination in Case 1 showed that there was no atrophy of the supraoptic nucleus and paraventricular nucleus, but immunohistochemical studies revealed, that the paraventricular nucleus scarcely had any vasopressin positive cells in contrast to an autopsy control. This finding suggests that there may be a congenital defect in AVP synthesis in some cases of hereditary DI.

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.

Unusual Segregation of APP Mutations in Monogenic Alzheimer Disease

2019 ◽  
Vol 19 (2) ◽  
pp. 96-100
Author(s):  
Gioia Mastromoro ◽  
Stefano Gambardella ◽  
Enrica Marchionni ◽  
Rosa Campopiano ◽  
Alice Traversa ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Autosomal Dominant ◽  
Age Of Onset ◽  
Gene Mutations ◽  
Missense Variant ◽  
The Other ◽  
Dominant Trait ◽  
Homozygous State ◽  
Severe Clinical Picture ◽  
App Gene

APP gene mutations causing Alzheimer disease (AD) segregate in an autosomal dominant pattern. We report on a 40-year-old woman with a severe cognitive decline starting at 36 years, while her affected relatives presented symptoms onset in the 6th decade. The proband carried an APP missense variant in homozygous state (NM_000484.4: c.2032G>A; NP_000475.1: p.Asp678Asn; rs63750064) and showed a more severe clinical picture than the other AD relatives, as regards the age of onset and the rate of disease progression. This mutation behaves as a semi-dominant trait. The very rare chance of studying APP mutations in the homozygous state demonstrates they are not always dominant and other segregation models are possible.

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