Clinical features and genetic screening of hereditary hemorrhagic telangiectasia / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 176-179, 2013.
Article
em Zh
| WPRIM
| ID: wpr-237287
Biblioteca responsável:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To analyze clinical features of 4 families with hereditary hemorrhagic telangiectasia (HHT) and potential mutations of ENG, ACVRL1 and SMAD4 genes.</p><p><b>METHODS</b>Four unrelated HHT patients and their affected family members were analyzed. All exons and flanking regions of ENG, ACVRL1 and SMAD4 genes were analyzed with PCR and direct sequencing and multiplex ligation-dependent probe amplification (MLPA) methods.</p><p><b>RESULTS</b>Eleven patients from the 4 families were enrolled in this study. Two ENG and 1 ACVRL1 mutations were identified, among which an ENG mutation (c.207G>A; p.L69L) and an ACVRL1 mutation (c.817C>T; p.L273L) have been previously reported. In addition, a novel ENG mutation (c.1004A>T; p.Q335L) has been found in 3 different families. Similar mutations were not detected in 200 healthy individuals. No mutations of ENG, ACVRL1 and SMAD4 were found in the fourth family.</p><p><b>CONCLUSION</b>A novel mutation c.1004A>T (p. Q335L) of ENG has been identified in patients with HHT. And there is significant phenotypic variability and genetic heterogeneity with the disease.</p>
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Telangiectasia Hemorrágica Hereditária
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Dados de Sequência Molecular
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Antígenos CD
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Testes Genéticos
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Sequência de Aminoácidos
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Receptores de Superfície Celular
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Receptores de Activinas Tipo II
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Diagnóstico
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Proteína Smad4
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Endoglina
Tipo de estudo:
Diagnostic_studies
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Screening_studies
Limite:
Adolescent
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Adult
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Female
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Humans
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Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Article