The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia

Kalsi, Gursharan; Mankoo, Baljinder S.; Brynjólfsson, Jón; Curtis, Diana; Read, Timothy D.; Murphy, Peregrine L.; Sharma, Tonmoy; Pétursson, Hannes; Gurling, Hugh

doi:10.1097/00041444-199400440-00006

Cited by 16 publications

(10 citation statements)

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“…A full description of the pedigrees, clinical assessment and sample selection criteria is given in Kalsi et al (1994). For the RED study of affected cases versus unaffected, subjects were chosen on the basis of earliest age of onset in each pedigree, and most severe schizophrenia in terms of Research Diagnostic Criteria (RDC) subtype.…”

Section: Methodsmentioning

confidence: 99%

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

et al. 1998

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Many diseases caused by trinucleotide expansion exhibit increased severity and decreased age of onset (genetic anticipation) in successive generations. Apparent evidence of genetic anticipation in schizophrenia has led to a search for trinucleotide repeat expansions. We have used several techniques, including Southern blot hybridization, repeat expansion detection (RED) and locus-specific PCR to search for expanded CAG/CTG repeats in 12 families from the United Kingdom and 11 from Iceland that are multiplex for schizophrenia and demonstrate anticipation. The unstable DNA theory could also explain discordance of phenotype for schizophrenia in pairs of monozygotic twins, where the affected twin has a greater number of repeats than the unaffected twin. We used these techniques to look for evidence of different CAG/CTG repeat size in 27 pairs of monozygotic twins who are either concordant or discordant for schizophrenia. We have found no evidence of an increase in CAG/CTG repeat size for affected members in the families, or for the affected twins in the MZ twin sample. Southern hybridization and RED analysis were also performed for the twin and family samples to look for evidence of expansion of GAA/TTC repeats. However, no evidence of expansion was found in either sample. Whilst these results suggest that these repeats are not involved in the etiology of schizophrenia, the techniques used for detecting repeat expansions have limits to their sensitivity. The involvement of other trinucleotide repeats or other expandable repeat sequences cannot be ruled out.

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Section: Methodsmentioning

confidence: 99%

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

et al. 1998

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“…In contrast, as co-occurrence of schizophrenia and MFS has been reported in several cases (2)(3)(4)(5), some researchers thought they might share some common aetiological pathways. However, a genetic linkage study reported no linkage between the fibrillin-1 gene locus and schizophrenia (9). In a recent study, Van Den Bossche et al (2) reported a 22-year-old woman who was first diagnosed with schizophrenia of paranoid subtype due to her psychiatric symptoms.…”

Section: Discussionmentioning

confidence: 99%

Neuropsychiatric complications in a patient with Marfan syndrome

Lee

Chu

Liu

et al. 2013

Acta Neuropsychiatr.

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“…Some early papers suggested that symptoms of schizophrenia are a part of Marfan syndrome, and later papers have suggested that the cause of schizophrenia should be linked to the FBN1 gene. However, a linkage study failed to demonstrate a common genetic factor [328]. In conclusion, for most of the papers, diagnostic information is sparse and the diagnosis of Marfan syndrome appears questionable.…”

Section: Schizophreniamentioning

confidence: 95%

“…Case reports reported on individuals and their families with coexistence of Marfan syndrome and schizophrenia [324][325][326][327][328][329][330][331][332][333][334]. Some early papers suggested that symptoms of schizophrenia are a part of Marfan syndrome, and later papers have suggested that the cause of schizophrenia should be linked to the FBN1 gene.…”

Section: Schizophreniamentioning

confidence: 99%

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

Kodolitsch

Demolder

Girdauskas

et al. 2019

Expert Review of Cardiovascular Therapy

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Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features. Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive-and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction. Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome. ARTICLE HISTORY

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The Marfan syndrome gene locus as a favoured locus for susceptibility to schizophrenia

Cited by 16 publications

References 0 publications

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

No evidence of expansion of CAG or GAA repeats in schizophrenia families and monozygotic twins

Neuropsychiatric complications in a patient with Marfan syndrome

Features of Marfan syndrome not listed in the Ghent nosology – the dark side of the disease

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