Dilated Cardiomyopathy in Standard Schnauzers: Retrospective Study of 15 Cases

ABSTRACT Dilated cardiomyopathy (DCM) is the most common myocardial disorder of dogs, typically affecting large and giant breeds. The purpose of this study was to describe the clinical features of DCM in standard schnauzers. Medical records for 15 standard schnauzers diagnosed with DCM were reviewed. The median age at diagnosis of DCM was 1.6 yr, with all dogs developing left-sided congestive heart failure (CHF). The median age of onset of CHF was 1.6 yr, and was significantly shorter in males (1.5 yr) than for females (2.35 yr). The median survival time after diagnosis of CHF was 22 days, and was shorter in males (13 days) than females (62 days). The occurrence of early onset DCM in multiple closely related standard schnauzers suggests a familial predisposition in this breed. Pedigree analysis confirmed common ancestry for all DCM affected dogs with a most likely autosomal recessive mode of inheritance.

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Genetic and Dental Study of Patients with Celiac Disease

Journal of Clinical Pediatric Dentistry ◽

10.17796/jcpd.35.2.8613257m26g47713 ◽

2010 ◽

Vol 35 (2) ◽

pp. 217-223 ◽

Cited By ~ 3

Author(s):

Soliman Ouda ◽

Omar Saadah ◽

Omar El Meligy ◽

Sumer Alaki

Keyword(s):

Celiac Disease ◽

Autosomal Recessive ◽

Pedigree Analysis ◽

Clinical Findings ◽

Autosomal Recessive Mode ◽

Enamel Hypoplasia ◽

Clinical Genetic ◽

Genetic Examination ◽

Mode Of Inheritance ◽

Saudi Patients

Objectives: The aim of this work was to study the pattern of inheritance of celiac disease in a group of Saudi patients and to compare oral mucosal and dental clinical findings in these patients to those of healthy controls.Study design: Fifty patients suffering from celiac disease were screened for dental evaluation. They were subjected to clinical genetic examination, pedigree construction, oral mucosal and dental clinical evaluation. Results: An autosomal recessive mode of inheritance was evident in some of the studied cases,while others showed sporadic occurrence. Oral mucosal and dental clinical examinations revealed recurrent oral ulcerations, enamel hypoplasia in most of the celiac disease patients. Conclusions: Pedigree analysis of families is important to identify the mode of inheritance. Oral mucosal and dental clinical examinations are important in diagnosing and monitoring cases of celiac disease.

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Primary Infundibular Stenosis and Pedigree Analysis in Three Golden Retriever Littermates

Journal of the American Animal Hospital Association ◽

10.5326/jaaha-ms-5654 ◽

2012 ◽

Vol 48 (1) ◽

pp. 50-53 ◽

Cited By ~ 1

Author(s):

Jason Arndt ◽

Petra Werner ◽

Meg Sleeper

Keyword(s):

Cardiac Disease ◽

Autosomal Recessive ◽

Pedigree Analysis ◽

Systolic Murmur ◽

Autosomal Recessive Mode ◽

Golden Retriever ◽

Congenital Cardiac Disease ◽

Infundibular Stenosis ◽

Mode Of Inheritance ◽

Autosomal Recessive Pattern

Three eight-week-old golden retriever puppy littermates were evaluated because of left basilar systolic murmurs and were diagnosed with primary infundibular stenosis. Pedigree analysis in this line was also performed to identify a mode of inheritance. All dogs were asymptomatic at the time of diagnosis; two of the three had congenital lesions in addition to primary infundibular stenosis. Two additional affected dogs were identified in the line, and pedigree analysis suggested an autosomal recessive mode of inheritance. Another, unrelated golden retriever was also identified with isolated infundibular stenosis in the record database. Primary infundibular stenosis should be considered in the differential diagnoses for golden retriever dogs with a left basilar systolic murmur, and is often associated with complex congenital cardiac disease. Primary infundibular stenosis may worsen in severity with time, and in this line of dogs an autosomal recessive pattern of inheritance is likely.

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A case of atypical systemic primary carnitine deficiency in Saudi Arabia

Pediatric Reports ◽

10.4081/pr.2018.7705 ◽

2018 ◽

Vol 10 (2) ◽

Author(s):

Abdulrahman Alghamdi ◽

Hani Almalki ◽

Aiman Shawli ◽

Rahaf Waggass ◽

Fahad Hakami

Keyword(s):

Dilated Cardiomyopathy ◽

Autosomal Recessive ◽

Acid Metabolism ◽

Age Of Onset ◽

Carnitine Deficiency ◽

Proximal Muscle ◽

Skeletal Myopathy ◽

Primary Carnitine Deficiency ◽

Elevated Transaminases ◽

Work Up

Systemic primary carnitine deficiency (SPCD) is an autosomal recessive inborn error of fatty acid metabolism caused by a defect in the transporter responsible for moving carnitine across plasma membrane. The clinical features of SPCD vary widely based on the age of onset and organs involved. During infancy, patients might show episodes of hypoketotic hypoglycemia, hepatomegaly, elevated transaminases, and hyperammonemia. Skeletal myopathy, elevated creatine kinase, and cardiomyopathy are the main manifestations in children with SPCD, while in adults, the disorder is usually manifested as cardiomyopathy, arrhythmias, or fatigability. Here, we report a 5-year-old boy with SPCD that presented as dilated cardiomyopathy with atypical features, such as anemia, respiratory distress, and proximal muscle weakness. This report supports considering carnitine deficiency treatment in the work-up of unexplained pediatric dilated cardiomyopathy.

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Pyloroduodenal Atresia (Diaphragm Type): An Autosomal Recessive Disease

PEDIATRICS ◽

10.1542/peds.62.3.419 ◽

1978 ◽

Vol 62 (3) ◽

pp. 419-421

Author(s):

Henry C. Mishalany ◽

Ziad H. Idriss ◽

Vazken M. Der Kaloustian

Keyword(s):

Autosomal Recessive ◽

Autosomal Recessive Disease ◽

Single Individual ◽

Autosomal Recessive Mode ◽

Genetic Etiology ◽

New Evidence ◽

Mode Of Inheritance

In 1970,1 1971,2 and 19743 we described two families, each with two siblings who had atresia of the first portion of the duodenum. The four patients were first cousins to each other. We suggested a genetic etiology with an autosomal recessive mode of inheritance, which has been accepted.4 The source of the proposed gene for both families was traced to a single individual. Recently, a third family, linked to the previous two with strong consanguineous ties, had a pair of twins affected with the same anomaly. The purpose of this article is to bring the weight of new evidence afforded by this third family to further substantiate the genetic etiology of this condition.

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Bi-allelic SHOC1 loss-of-function mutations cause meiotic arrest and non-obstructive azoospermia

Journal of Medical Genetics ◽

10.1136/jmedgenet-2020-107042 ◽

2020 ◽

pp. jmedgenet-2020-107042

Author(s):

Chencheng Yao ◽

Chao Yang ◽

Liangyu Zhao ◽

Peng Li ◽

Ruhui Tian ◽

...

Keyword(s):

Autosomal Recessive ◽

Periodic Acid ◽

Compound Heterozygous ◽

Obstructive Azoospermia ◽

Autosomal Recessive Mode ◽

Loss Of Function ◽

Meiotic Arrest ◽

Causative Gene ◽

Periodic Acid Schiff ◽

Mode Of Inheritance

BackgroundThe genetic causes of human idiopathic non-obstructive azoospermia (NOA) with meiotic arrest remain unclear.MethodsTwo Chinese families with infertility participated in the study. In family 1, two brothers were affected by idiopathic NOA. In family 2, the proband was diagnosed with idiopathic NOA, and his elder sister suffered from infertility. Whole-exome sequencing (WES) was conducted in the two patients in family 1, the proband in family 2 and 362 additional sporadic patients with idiopathic NOA. Sanger sequencing was used to verify the WES results. Periodic acid–Schiff (PAS), immunohistochemistry (IHC) and meiotic chromosomal spread analyses were carried out to evaluate the stage of spermatogenesis arrested in the affected cases.ResultsWe identified compound heterozygous loss of function (LoF) variants of SHOC1 (c.C1582T:p.R528X and c.231_232del:p.L78Sfs*9, respectively) in both affected cases with NOA from family 1. In family 2, homozygous LoF variant in SHOC1 (c.1194delA:p.L400Cfs*7) was identified in the siblings with infertility. PAS, IHC and meiotic chromosomal spread analyses demonstrated that the spermatogenesis was arrested at zygotene stage in the three patients with NOA. Consistent with the autosomal recessive mode of inheritance, all of these SHOC1 variants were inherited from heterozygous parental carriers. Intriguingly, WES of 362 sporadic NOA cases revealed one additional NOA case with a bi-allelic SHOC1 LoF variant (c.1464delT:p.D489Tfs*13).ConclusionTo the best of our knowledge, this is the first report identifying SHOC1 as the causative gene for human NOA. Furthermore, our study showed an autosomal recessive mode of inheritance in the NOA caused by SHOC1 deficiency.

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Pedigree Analysis of Idiopathic Epilepsy In Children of South Kerala

National Journal of Clinical Anatomy ◽

10.1055/s-0039-3401652 ◽

2012 ◽

Vol 01 (01) ◽

pp. 024-029

Author(s):

Amar Jayanthi. A.

Keyword(s):

Genetic Factors ◽

Age Of Onset ◽

Association Studies ◽

Positive Family History ◽

Susceptibility Gene ◽

Pedigree Analysis ◽

Idiopathic Epilepsy ◽

Major Health Problem ◽

Neurology Clinic ◽

Mode Of Inheritance

Abstract Background and aims: Epilepsy is a major health problem in infancy and childhood. Genetic factors are implicated in the etiology of epilepsy. A familial susceptibility to seizures have been recognized but the exact mode of inheritance remains unclear. The chief objective was to determine the inheritance pattern and to correlate its prevalence among closer relatives on the basis of sex, degree of relationship and age of onset of the disease. Materials and methods: A pedigree analysis of 100 clinically diagnosed children with idiopathic epilepsy seen between 1994 and 1997 at the Paediatric Neurology Clinic of Government Medical College, Thiruvananthapuram was done. The mode of inheritance was tested according to the genetic hypothesis of segregation analysis. Results: Positive family history was observed in 49% of the probands. A high proportion of probands with an early onset of disease showed involvement of family members and a significant sex predisposition for females was obtained. Relatives of female probands were affected more than those of males. Mothers were found to transmit the disease to offsprings more than the epileptic fathers. Conclusion: The results of pedigree analysis supported the hypothesis of an autosomal multifactorial mode of inheritance, with 86% heritability and a lower threshold for the disease to manifest. The application of modern genetic principles like identification of susceptibility gene to epilepsy, linkage and association studies would advance our understanding of the etiology of seizure disorders. Genetic factors may play a major role in the predisposition of relatives to epilepsy in families of probands with idiopathic epilepsy. The present study may aid in the genetic counselling of parents with epilepsy.

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The Detection of Carriers in Hereditary Myoclonic Epilepsy

Acta geneticae medicae et gemellologiae ◽

10.1017/s1120962300018199 ◽

1960 ◽

Vol 9 (4) ◽

pp. 466-471 ◽

Cited By ~ 4

Author(s):

M. Bruce Sarlin ◽

H. Warner Kloepfer ◽

Walter A. Mickle ◽

Robert G. Heath

Keyword(s):

Autosomal Recessive ◽

Similar Type ◽

Myoclonic Epilepsy ◽

Autosomal Recessive Mode ◽

Negro Family ◽

Heterozygous Carriers ◽

Mode Of Inheritance

SummaryThree cases of hereditary myoclonic epilepsy have been observed among ten siblings in a Negro family. Electroencephalograms of the parents, three normal siblings and two of the three affected siblings have been recorded and all show abnormalities of a similar type. These are of a generalized nature revealing no focal damage. This type of abnormality has been observed in an affected male and two normal siblings by Watson and Denny-Brown.The autosomal recessive mode of inheritance observed in the present study is consistent with the transmission most frequently reported in myoclonic epilepsy. We believe that abnormal electroencephalographic patterns are associated with this gene and that these patterns may be useful in the detection of heterozygous carriers.

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