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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Abouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, Dorota

Human genomics, 2021-08, Vol.15 (1), p.52-52, Article 52 [Periódico revisado por pares]

England: BioMed Central

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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining
Autor: Abouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, Dorota
Assuntos: Adolescent ; Adult ; Aged ; Amino acid sequence ; Amyloid Neuropathies, Familial - epidemiology ; Amyloid Neuropathies, Familial - genetics ; Amyloid Neuropathies, Familial - pathology ; Amyloidogenesis ; Amyloidosis ; Child ; Data Mining ; Diagnosis ; Epidemiology ; Familial ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic screening ; Genetic Testing ; Genetic Variation - genetics ; Genotype & phenotype ; Humans ; Life expectancy ; Male ; Middle Aged ; Missense mutation ; Mutation ; Mutation, Missense - genetics ; Patients ; Population ; Prealbumin - genetics ; Primary Research ; Proteins ; Rare diseases ; Saudi Arabia - epidemiology ; Saudi population ; Thyroid gland ; Transthyretin ; Young Adult
É parte de: Human genomics, 2021-08, Vol.15 (1), p.52-52, Article 52
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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Descrição: Familial transthyretin (TTR) amyloidosis (ATTR) is an autosomal dominant disease with significant phenotypic heterogeneity. Its prevalence in Saudi Arabia has not previously been investigated. An existing exome variant database of Saudi individuals, sequenced to globally investigate rare diseases in the population, was mined for TTR variants and filtered for missense mutations resulting in single amino acid changes. A total of 13,906 Saudi exomes from unrelated individuals were analyzed blindly. Three TTR variants known to be associated with ATTR amyloidosis were identified. Additionally, three novel TTR mutations were identified. Structural analysis of the three novel variants suggests that at least two could be amyloidogenic. The most common variant associated with amyloidosis was p.Val142Ile (allele frequency 0.001). Further investigation of these variants and their translation to clinical practice may help to diagnose, monitor, and manage patients with ATTR amyloidosis. Multiple TTR variants potentially associated with systemic ATTR amyloidosis were identified in the Saudi population. Early diagnosis and intervention, facilitated by familial genetic testing of patients with ATTR amyloidosis, may benefit in the management of this disease. Early diagnosis could be enhanced through inclusion of ATTR variants in existing population-based screening programs.
Editor: England: BioMed Central
Idioma: Inglês

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Established and candidate transthyretin amyloidosis variants identified in the Saudi population by data mining

Abouelhoda, Mohamed ; Mohty, Dania ; Alayary, Islam ; Meyer, Brian F ; Arold, Stefan T ; Fadel, Bahaa M ; Monies, Dorota

England: BioMed Central

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