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.
Artigo
em Chinês
| WPRIM
| ID: wpr-776823
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fatores de Transcrição
/
Anormalidades Múltiplas
/
Cromossomos Humanos Par 2
/
Deleção Cromossômica
/
Proteínas de Ligação à Região de Interação com a Matriz
/
Genética
/
Deficiência Intelectual
/
Mutação
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo
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