Analysis of the GABRG2 gene mutation in a Chinese family with generalized epilepsy with febrile seizures plus / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 611-615, 2008.
Article
Dans Chinois
| WPRIM
| ID: wpr-308008
ABSTRACT
<p><b>OBJECTIVE</b>To identify the mutation of the GABA(A)-receptor gamma 2 subunit gene (GABRG2) in a Chinese family with generalized epilepsy with febrile seizures plus (GEFS+ ) and analyze the genotype-phenotype correlations and its inheritance.</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood lymphocytes of the proband and other available members in the GEFS+ family. The coding regions and flanking intronic regions of the GABRG2 gene were screened for mutations using polymerase chain reaction (PCR) and direct DNA sequencing.</p><p><b>RESULTS</b>There were 7 affected members in the three-generation family, in which one with febrile seizures (FS) and six with febrile seizures plus (FS+ ). This family was consistent with the diagnostic criteria of GEFS+ . The nonsense mutation c.1287G to A (p.W390X) in the GABRG2 gene was initially identified in the proband. Seven affected members (6 FS+ and 1 FS) and one unaffected member carried the mutation. The nonsense mutation c.1287G to A/p.W390X in the GABRG2 gene was co-segregated with the GEFS+ family. The penetrance rate was about 87.5%(7/8).</p><p><b>CONCLUSION</b>This GEFS+ family was consistent with autosomal dominant inheritance with incomplete penetrance. GABRG2 mutation is also a disease-causing mutation in Chinese GEFS+ patients. The p.W390X mutation has not been reported previously.</p>
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Pedigree
/
Phénotype
/
Analyse de mutations d'ADN
/
Données de séquences moléculaires
/
Séquence nucléotidique
/
Chimie
/
Exons
/
Séquence d'acides aminés
/
Épilepsie généralisée
/
Séquence conservée
Type d'étude:
Étude pronostique
Limites du sujet:
Animaux
/
Humains
/
Mâle
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2008
Type:
Article
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