ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders

2020 ◽  
Author(s):  
Jacob Steinle ◽  
Waheeda A. Hossain ◽  
Scott Lovell ◽  
Olivia J. Veatch ◽  
Merlin G. Butler
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Gene Variant ◽  
Connective Tissue Disorders

scholarly journals A Report of a Novel Pathogenic Variant in a Family with Buschke–Ollendorf Syndrome

2019 ◽  
Vol 09 (01) ◽  
pp. 063-065
Author(s):  
Angita Jain ◽  
Pavalan Selvam ◽  
Herjot Atwal ◽  
Paldeep S. Atwal
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Comprehensive Evaluation ◽  
Single Gene ◽  
Family Members ◽  
Pathogenic Variant ◽  
Connective Tissue Disorders ◽  
Phenotype Correlation ◽  
Autosomal Dominant Disorder ◽  
Gene Testing

AbstractBuschke–Ollendorf Syndrome (BOS) is a benign autosomal dominant disorder caused by pathogenic mutations in LEMD3. Here, we describe a family diagnosed to have varied phenotypes associated with BOS. Single gene testing of LEMD3 detected a heterozygous frameshift pathogenic variant in both the affected family members. Besides the phenotypic description, this report highlights the need for a comprehensive evaluation in connective tissue disorders and the importance of genotype–phenotype correlation in BOS.

scholarly journals Genomic Observations of a Rare/Pathogenic SMAD3 Variant in Loeys–Dietz Syndrome 3 Confirmed by Protein Informatics and Structural Investigations

Medicina ◽  
2019 ◽  
Vol 55 (5) ◽  
pp. 137
Author(s):  
John E. Richter ◽  
Ayesha Samreen ◽  
Charitha Vadlamudi ◽  
Haytham Helmi ◽  
Ahmed N. Mohammad ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Autosomal Dominant ◽  
Connective Tissue Disorders ◽  
Structural Investigations ◽  
Variant Of Uncertain Significance ◽  
Common Features ◽  
Pathogenic Variants ◽  
Uncertain Significance ◽  
History Of ◽  
Arterial Aneurysms

Background and objectives: Loeys–Dietz syndrome 3, also known as aneurysms-–osteoarthritis syndrome, is an autosomal dominant genetic connective tissue disease caused by pathogenic variants in SMAD3, a transcription factor involved in TGF-β signaling. This disorder is characterized by early-onset osteoarthritis and arterial aneurysms. Common features include scoliosis, uvula abnormalities, striae, and velvety skin. Materials and Methods: The pathogenicity of a variant of uncertain significance in the SMAD3 gene was evaluated (variant c.220C > T) through personalized protein informatics and molecular studies. Results: The case of a 44-year-old male, who was originally presumed to have Marfan syndrome, is presented. An expanded gene panel determined the probable cause to be a variant in SMAD3, c.220C > T (p.R74W). His case was complicated by a history of stroke, but his phenotype was otherwise characteristic for Loeys–Dietz syndrome 3. Conclusion: This case emphasizes the importance of comprehensive genetic testing to evaluate patients for connective tissue disorders, as well as the potential benefit of utilizing a protein informatics platform for the assessment of variant pathogenicity.

scholarly journals A kindred exhibiting cosegregation of an overlap connective tissue disorder and the chromosome 16 linked form of autosomal dominant polycystic kidney disease.

1993 ◽  
Vol 4 (6) ◽  
pp. 1371-1378
Author(s):  
S Somlo ◽  
G Rutecki ◽  
L A Giuffra ◽  
S T Reeders ◽  
A Cugino ◽  
...  
Keyword(s):  
Renal Failure ◽  
Kidney Disease ◽  
Connective Tissue ◽  
Polycystic Kidney Disease ◽  
Aortic Root ◽  
Autosomal Dominant ◽  
Chromosome 16 ◽  
Connective Tissue Disorders ◽  
Polycystic Kidney ◽  
Autosomal Dominant Polycystic Kidney

Autosomal dominant polycystic kidney disease (ADPKD) is a disorder of adult onset manifested by bilaterally enlarged cystic kidneys frequently associated with progressive renal failure. The mutated gene (PKD1) responsible for 85 to 95% of cases has been localized to a small segment on the distal tip of the short arm of chromosome 16. A clinical spectrum of heritable connective tissue disorders that remain unclassifiable under the present nosology but that contain elements of the Marfan's syndrome have previously been described. The genetic localization and molecular basis of such overlap connective tissue disorders (OCTD) have not been elucidated. In this report, a kindred in which ADPKD and OCTD appear to cosegregate is described. The connective tissue phenotype in this family includes aortic root dilation, aortic and vertebral artery aneurysms with dissection, and aortic valve incompetence, as well as pectus abnormalities, pes planus, joint laxity, arachnodactyly, scoliosis, dolichostenomelia, and high arched palate. ADPKD was manifest primarily as bilateral renal cysts with or without renal failure. The DNA of all living family members was studied with markers recognizing polymorphic loci flanking the PKD1 region (3'HVR and O90a), as well as markers from the loci of chromosomes 15 and 5, associated with fibrillin genes FBN1 and FBN2, respectively. In this kindred of 20 family members traced through five generations, cosegregation of ADPKD and the OCTD phenotype was observed in 12 of 12 meioses and 3 of 3 phase known. Both markers for PKD1 were tightly linked to both ADPKD and OCTD, whereas there was no evidence for linkage with either fibrillin locus. In this family, the ADPKD and OCTD mutations are genetically linked. The presence of OCTD with ADPKD identifies a group of patients at significantly greater risk for sudden death from aortic root and other vascular aneurysmal dissection and rupture.

scholarly journals A RARE CASE OF PSEUDOXANTHOMA ELASTICUM

2020 ◽  
pp. 1-1
Author(s):  
Sucheta Pathania
Keyword(s):  
Connective Tissue ◽  
Effective Treatment ◽  
Blood Vessels ◽  
Rare Case ◽  
Autosomal Dominant ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Elastic Tissue ◽  
Connective Tissue Disorders ◽  
Skin Blood Vessels

Pseudoxanthoma elasticum (PXE) is also known as Gronblad-Strandberg syndrome. It belongs to the group of connective tissue disorders that affect the elastic tissue of the skin, blood vessels, and the eyes. Both autosomal dominant and recessive patterns of inheritance can be seen. Skin lesions consist of small, yellowish papules in rows or a lacy pattern, which may coalesce to form larger patches. The skin is soft, lax and slightly wrinkled. Common sites affected in PXE are the sides of the neck, below the collar bones, the armpits, abdomen, groins, perineum and thighs. Currently there is no effective treatment for the condition. As it can be passed to next generation genetic counselling can be helpful.

Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). II - Ricerche sui fattori ereditari del reumatismo cronico primario

1956 ◽  
Vol 5 (3) ◽  
pp. 402-425 ◽  
Author(s):  
G. G. Neri Serneri ◽  
di V. Bartoli
Keyword(s):  
Rheumatoid Arthritis ◽  
Connective Tissue ◽  
Genetic Relationship ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Allergic Diseases ◽  
Control Group ◽  
Connective Tissue Disorders ◽  
Hereditary Predisposition ◽  
Reduced Penetrance

SUMMARYThis study is based on pedigrees of 192 patients with rheumatoid arthritis which are compared with pedigrees of 300 controls.6,3 per cent of all relatives in the first group had rheumatoid arthritis compared to 0,38 per cent of all relatives in the control group. An hereditary predisposition to rheumatoid arthritis is definitevely to be admitted.This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity. It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesis of degenerative connective tissue disorders (mesenchymotic diathesis).

Sulla eredopatologia delle mesenchimopatie reattive (cosidette malattie del collageno). I - Ricerche sui fattori ereditari del reumatismo acuto primario

1956 ◽  
Vol 5 (2) ◽  
pp. 155-189 ◽  
Author(s):  
G. G. Neri Serneri ◽  
V. Bartoli
Keyword(s):  
Connective Tissue ◽  
Rheumatic Fever ◽  
Genetic Relationship ◽  
Autosomal Dominant ◽  
Dominant Gene ◽  
Allergic Diseases ◽  
Control Group ◽  
Connective Tissue Disorders ◽  
Hereditary Predisposition ◽  
Reduced Penetrance

SUMMARYThis study is based on pedigrees of 287 patients with Rheumatic Fever, which are compared with pedigrees of 300 controls: 11,7 per cent of all relatives in the first group had rheumatic fever, compared to 2,2 per cent of all relatives in the control group.An hereditary predisposition to rheumatic fever is definitevely to be admitted.This predisposition is due to the presence of a principal autosomal dominant gene with reduced penetrance and variable expressivity.It seems to have no genetic relationship to the diathesis of allergic diseases and the diathesi of degenerative connective tissue disorders mesenchymotic diathesis.

Treatment of an asymptomatic penetrating aortic ulcer in a young patient

VASA ◽  
2010 ◽  
Vol 39 (2) ◽  
pp. 175-179
Author(s):  
Hakimi ◽  
Geisbüsch ◽  
Gross ◽  
Hyhlik-Dürr ◽  
Hausser ◽  
...  
Keyword(s):  
Electron Microscopy ◽  
Connective Tissue ◽  
Aortic Arch ◽  
Open Surgery ◽  
Open Repair ◽  
Thoracic Endovascular Aortic Repair ◽  
Concomitant Disease ◽  
Connective Tissue Disorders ◽  
Penetrating Aortic Ulcer ◽  
Pathological Analysis

We want to report and discuss the indication for open surgery for an asymptomatic penetrating aortic ulcer (PAU) in the era of thoracic endovascular aortic repair (TEVAR). A 31-year-old female presented with the diagnosis of an aneurysm in the distal aortic arch. With respect to the patient’s young age, the controversial status of connective tissue disorders and in the absence of concomitant disease, open repair was indicated. There was no proof of a mycotic plaque or connective tissue disease in the microbiological-, pathological analysis and at electron-microscopy. The patient was discharged on the thirteenth postoperative day. In spite of good preliminary results of TEVAR in PAU, in selective cases there is still an indication for open surgery.

Evaluation of Antinuclear Antibody in Connective Tissue Disorders

2012 ◽  
Vol 3 (6) ◽  
pp. 19-21
Author(s):  
Dr.Ashish Patela ◽  
◽  
Dr.Dipika Sathvara ◽  
Dr.Himanshu Patel ◽  
Dr.C.Chakrabarti Dr.C.Chakrabarti
Keyword(s):  
Connective Tissue ◽  
Antinuclear Antibody ◽  
Connective Tissue Disorders

Work-related Musculoskeletal Disorders in Emergency Medical Personnel

2020 ◽  
pp. 42-45
Author(s):  
L.M. Karamova ◽  
V.O. Krasovskiy ◽  
D.M. Vagapova ◽  
N.V. Vlasova ◽  
A.S. Khafizova ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Musculoskeletal Disorders ◽  
Disease Incidence ◽  
Medical Personnel ◽  
Incidence Rates ◽  
Connective Tissue Disorders ◽  
Ambulance Personnel ◽  
Occupational Risk Factors ◽  
Emergency Medical ◽  
Emergency Medical Personnel

Relevance. The importance of studying and analyzing contribution of occupational risk factors in musculoskeletal disorders among emergency medical personnel is related to high disease incidence rates and work specifics. The objective of our research envisaged formalization of information obtained for the analysis and assessment of occupational risks of developing musculoskeletal and connective tissue disorders in ambulance personnel. Results. According to professional medical examination results, musculoskeletal and connective tissue disorders ranked second among all diagnosed diseases. The relative risk of developing those disorders was 70% indicating the link between them and transport vibration (category 1) affecting the backbone during long trips in ambulance cars.

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