Familial intracranial aneurysms: Report of three families

Maroun, F. B.; Murray, Gerald P.; Jacob, Jacob C.; Mangan, Michael; Faridi, Majid

doi:10.1016/0090-3019(86)90122-9

Cited by 11 publications

(3 citation statements)

References 17 publications

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“…In addition, among family members, intracranial aneurysms more often arise from the same arterial distribution and more often rupture within the same decade of life. 57 Since the initial report in 1954 by Chambers and colleagues, 8 a multitude of families with documented intracranial aneurysms have been described, 67977 but the pattern of inheritance of familial intracranial aneurysms has not been established. To better delineate the pattern of inheritance of familial intracranial aneurysms, we present data on a large North American family with intracranial aneurysms and, in conjunction with this, analyze the data from all identified published pedigrees of familial intracranial aneurysms.…”

Section: Background and Purposementioning

confidence: 99%

On the inheritance of intracranial aneurysms.

Schievink

Schaid

Rogers

et al. 1994

Stroke

115

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Background and PurposeThe familial occurrence of intracranial aneurysms suggests the presence of a genetically determined underlying arteriopathy. The pattern of inheritance in these families usually is not known.Methods A family with seven members with intracranial aneurysms is described and, from the literature before 1994, a total of 238 families with 560 affected members (56% female and 44% male) with intracranial aneurysms not associated with a known heritable disease are reviewed. A segregation analysis was performed on 73 of these families.Results Two members were affected in the great majority of families (79%); five or more members were reported in only eight families (3%). The most common affected kinship was among siblings. Angiographic screening in 12 families detected an intracranial aneurysm in 29% of 51 asymptomatic relatives. Segregation analysis revealed several patterns of inheritance

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Section: Background and Purposementioning

confidence: 99%

On the inheritance of intracranial aneurysms.

Schievink

Schaid

Rogers

et al. 1994

Stroke

115

View full text Add to dashboard Cite

show abstract

“…[7][8][9] The presence of familial IA in the population was first referenced in a case study of familial central nervous system disorders, which described three families with seven individuals that had been diagnosed with subarachnoid hemorrhage (SAH). 10 Previous studies have also reported an increased prevalence of familial IA in similar genetic isolates, such as the French-Canadian population of Québec and the Finnish population. [11][12][13] In order to elucidate the genetic risk factors involved with familial IA development in this province, we investigated the presence of shared, rare variants in affected family members from two large kindreds, through the use of whole exome sequencing (WES).…”

Section: Introductionmentioning

confidence: 92%

Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis

Powell

Fernandez

Maroun

et al. 2019

Can. J. Neurol. Sci.

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ABSTRACT:Objective:Intracranial aneurysm (IA) is an expansion of the weakened arterial wall that is often asymptomatic until rupture, resulting in subarachnoid hemorrhage. Here we describe the high prevalence of familial IA in a cohort of Newfoundland ancestry. We began to investigate the genetic etiology of IA in affected family members, as the inheritance of this disease is poorly understood.Methods:Whole exome sequencing was completed for a cohort of 12 affected individuals from two multiplex families with a strong family history of IA. A filtering strategy was implemented to identify rare, shared variants. Filtered variants were prioritized based on validation by Sanger sequencing and segregation within the families.Results:In family R1352, six variants passed filtering; while in family R1256, 68 variants remained, so further filtering was pursued. Following validation by Sanger sequencing, top candidates were investigated in a set of population controls, namely,C4orf6c.A1G (p.M1V) andSPDYE4c.C103T (p.P35S). Neither was detected in 100 Newfoundland control samples.Conclusion:Rare and potentially deleterious variants were identified in both families, though incomplete segregation was identified for all filtered variants. Alternate methods of variant prioritization and broader considerations regarding the interplay of genetic and environmental factors are necessary in future studies of this disease.

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“…An allele designated "0" indicates a failed reaction. and Ko 1980; Morooka and Waga 1983;Maroun et al 1986;Elshunnar and Whittle 1990). Indeed, there is a three-to fivefold increase in risk for first-degree relatives of affected individuals, compared with the general population (Stehbens 1998;Ronkainen et al 1999).…”

Section: Figurementioning

confidence: 99%

Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13

Nahed

Şeker

Güçlü

et al. 2005

The American Journal of Human Genetics

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The identification of pathways that underlie common disease has been greatly impacted by the study of rare families that segregate single genes with large effect. Intracranial aneurysm is a common neurological problem; the rupture of these aneurysms constitutes a frequently catastrophic neurologic event. The pathogenesis of these aneurysms is largely unknown, although genetic and environmental factors are believed to play a role. Previous genomewide studies in affected relative pairs have suggested linkage to several loci, but underlying genes have not been identified. We have identified a large kindred that segregates nonsyndromic intracranial aneurysm as a dominant trait with high penetrance. Genomewide analysis of linkage was performed using a two-stage approach: an analysis of ~10,000 single-nucleotide polymorphisms in the 6 living affected subjects, followed by the genotyping of simple tandem repeats across resulting candidate intervals in all 23 kindred members. Analysis revealed significant linkage to a single locus, with a LOD score of 4.2 at 1p34.3-p36.13 under a dominant model with high penetrance. These findings identify a Mendelian form of intracranial aneurysm and map the location of the underlying disease locus.

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Familial intracranial aneurysms: Report of three families

Cited by 11 publications

References 17 publications

On the inheritance of intracranial aneurysms.

On the inheritance of intracranial aneurysms.

Familial Intracranial Aneurysm in Newfoundland: Clinical and Genetic Analysis

Mapping a Mendelian Form of Intracranial Aneurysm to 1p34.3-p36.13

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