Identification of a GNB1 gene variant in a child with autosomal dominant mental retardation 42 / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 565-568, 2021.
Article
Dans Chinois
| WPRIM
| ID: wpr-879627
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a child featuring global developmental delay.@*METHODS@#DNA was extracted from peripheral blood sample taken from the patient and subjected to whole exome sequencing. Suspected variants were verified by Sanger sequencing of his family members.@*RESULTS@#A heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene was detected in the proband, which was a verified to be de novo in origin.@*CONCLUSION@#The heterozygous c.239T>C (p.Ile80Thr) variant of the GNB1 gene probably underlay the disease in this child.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Arthrogrypose
/
Famille
/
Sous-unités bêta des protéines G
/
/
Hétérozygote
/
Déficience intellectuelle
Type d'étude:
Etude diagnostique
Limites du sujet:
Enfant
/
Humains
langue:
Chinois
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2021
Type:
Article
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