Primary Infundibular Stenosis and Pedigree Analysis in Three Golden Retriever Littermates

2012 ◽  
Vol 48 (1) ◽  
pp. 50-53 ◽  
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.

Genetic and Dental Study of Patients with Celiac Disease

2010 ◽  
Vol 35 (2) ◽  
pp. 217-223 ◽  
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.

Dilated Cardiomyopathy in Standard Schnauzers: Retrospective Study of 15 Cases

2017 ◽  
Vol 53 (1) ◽  
pp. 38-44 ◽  
Author(s):  
Mark W. Harmon ◽  
Stacey B. Leach ◽  
Kenneth E. Lamb
Keyword(s):  
Heart Failure ◽  
Dilated Cardiomyopathy ◽  
Medical Records ◽  
Autosomal Recessive ◽  
Age Of Onset ◽  
Pedigree Analysis ◽  
Common Ancestry ◽  
Autosomal Recessive Mode ◽  
Familial Predisposition ◽  
Mode Of Inheritance

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.

Pyloroduodenal Atresia (Diaphragm Type): An Autosomal Recessive Disease

PEDIATRICS ◽  
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.

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

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.

The Detection of Carriers in Hereditary Myoclonic Epilepsy

1960 ◽  
Vol 9 (4) ◽  
pp. 466-471 ◽  
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.

scholarly journals A case of Ritscher-Schinzel syndrome or 3C syndrome

2017 ◽  
Vol 4 (3) ◽  
pp. 1122
Author(s):  
G. Deepika ◽  
Chaitali R Raghoji ◽  
R. C. Ashwini ◽  
G. Guruprasad
Keyword(s):  
Cardiac Disease ◽  
Autosomal Recessive ◽  
Cerebellar Hypoplasia ◽  
Cardiac Defects ◽  
Cardiac Syndrome ◽  
Chromosome 8Q24 ◽  
Autosomal Recessive Pattern ◽  
Disease Present

Ritscher Schinzel syndrome or cranio-cerebello-cardiac syndrome is characterized by cardiac defects, cerebellar hypoplasia and cranial defects. It is usually inherited as autosomal recessive pattern involving chromosome 8q24. the overall prognosis vary widely and it correlates with the cardiac disease present. 

Prenatal diagnosis of topsy-turvy heart

2008 ◽  
Vol 18 (3) ◽  
pp. 337-342 ◽  
Author(s):  
Edgar Jaeggi ◽  
David Chitayat ◽  
Fraser Golding ◽  
Peter Kim ◽  
Shi-Joon Yoo
Keyword(s):  
Prenatal Diagnosis ◽  
Cardiac Disease ◽  
Main Bronchus ◽  
Single Gene ◽  
Left Main Bronchus ◽  
Left Main ◽  
Unique Form ◽  
Single Gene Disorder ◽  
Congenital Cardiac Disease ◽  
Mode Of Inheritance

AbstractWe describe two siblings of consanguineous parents with a prenatal diagnosis of a currently unique form of congenital cardiac disease characterized by superior-inferior atrial and ventricular arrangement, concordant atrioventricular and ventriculo-arterial connections with normal arterial relationships, and a bizarre topography of the ventricular outlets, with the arterial poles being displaced posterior-inferiorly within the thorax. The abnormally low position of the aortic arch resulted in elongation and stretching of the airways, with severe compression of the trachea and left main bronchus in the surviving sibling. The finding of the same rare abnormality in a son and a daughter born to consanguineous parents supports a single gene disorder with a recessive mode of inheritance.

Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance

2008 ◽  
Vol 27 (01) ◽  
pp. 1-12 ◽  
Author(s):  
D. Kabzinska ◽  
I. Hausmanowa-Petrusewicz ◽  
A. Kochanski
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Recessive Mode ◽  
Charcot Marie Tooth ◽  
Mode Of Inheritance
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