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
Dans Chinois
| WPRIM
| ID: wpr-237287
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>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Télangiectasie hémorragique héréditaire
/
Données de séquences moléculaires
/
Antigènes CD
/
Dépistage génétique
/
Séquence d'acides aminés
/
Récepteurs de surface cellulaire
/
Récepteur activine, type 2
/
Diagnostic
/
Protéine Smad-4
/
Endogline
Type d'étude:
Etude diagnostique
/
Étude de dépistage
Limites du sujet:
Adolescent
/
Adulte
/
Femelle
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2013
Type:
Article
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