Mutation analysis of CRYBB1 gene and prenatal diagnosis for a Chinese kindred featuring autosomal dominant congenital nuclear cataract / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 266-269, 2013.
Article
de Zh
| WPRIM
| ID: wpr-237270
Bibliothèque responsable:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To perform mutation screening and prenatal diagnosis for a five-generation Chinese pedigree with autosomal dominant congenital nuclear cataract from Henan province by DNA sequencing.</p><p><b>METHODS</b>Blood samples were taken from the family members. Four candidate genes (CRYBA1/A3, CRYBB1, CRYBB2 and CRYGD) were screened for mutations using direct sequencing. Prenatal genetic diagnosis was provided for a fetus at early gestation through chorionic villus sampling.</p><p><b>RESULTS</b>A missense mutation, c.387C to A, was detected in exon 4 of the CRYBB1 gene in all of the patients. The mutation has resulted in a p.S129R transversion. The same mutation was not found in the fetus of the proband, who was confirmed to be healthy by one-year follow-up.</p><p><b>CONCLUSION</b>A missense mutation p.S129R of the CRYBB1 gene probably underlies the autosomal dominant congenital nuclear cataract in this pedigree. Detection of the mutation also facilitated prenatal genetic testing for the family.</p>
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
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Diagnostic prénatal
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Cataracte
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Analyse de mutations d'ADN
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Séquence nucléotidique
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Chine
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Chaîne B de la cristalline-bêta
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Asiatiques
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Diagnostic
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Gènes dominants
Type d'étude:
Diagnostic_studies
Limites du sujet:
Female
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Humans
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Male
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Pregnancy
Pays comme sujet:
Asia
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2013
Type:
Article