Analysis of SATB2 gene mutation in a child with Glass syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 712-715, 2019.
Article
em Zh
| WPRIM
| ID: wpr-776823
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To analyze the clinical characteristics and genetic basis of a child affected with Glass syndrome.@*METHODS@#Clinical manifestations and auxiliary examination results of the child were analyzed. Potential mutation was detected with next generation sequencing and validated by Sanger sequencing.@*RESULTS@#The child has featured growth and mental retardation, delayed speech, cleft palate, crowding of teeth, and downslanting palpebral fissures. DNA sequencing revealed a de novo heterozygous missense mutation c.1166G>A (p.R389H) in exon 8 of the SATB2 gene in the child.@*CONCLUSION@#The heterozygous mutation c.1166G>A (p.R389H) of the SATB2 gene probably account for the Glass syndrome in the patient.
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Base de dados:
WPRIM
Assunto principal:
Fatores de Transcrição
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Anormalidades Múltiplas
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Cromossomos Humanos Par 2
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Deleção Cromossômica
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Proteínas de Ligação à Região de Interação com a Matriz
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Genética
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Deficiência Intelectual
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Mutação
Limite:
Child
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Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Article