Analysis of a case of Warburg micro syndrome type 1 due to variant of RAB3GAP1 gene / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1384-1386, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-879505
ABSTRACT
OBJECTIVE@#To explore the clinical and genetic characteristics of a child featuring developmental delay.@*METHODS@#The child was subjected to whole exome sequencing. Candidate variant was verified by Sanger sequencing.@*RESULTS@#Whole genome sequencing revealed that the child has carried compound heterozygous variants c.2607-1G>C and c.899 + 2dupT of the RAB3GAP1 gene, which were respectively derived from her mother and father.@*CONCLUSION@#A rare case of Warburg micro syndrome type 1 was diagnosed. The phenotype of the child was consistent with the literature, in addition with dysplasia of palatine arch, prominent high palatal arch and tooth dysplasia. Above finding has provided a basis for genetic counseling and prenatal diagnosis for the family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Anormalidades Múltiplas
/
Catarata
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Atrofia Óptica
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Córnea
/
Proteínas rab3 de Ligação ao GTP
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Sequenciamento do Exoma
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Hipogonadismo
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Deficiência Intelectual
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Microcefalia
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Mutação
Limite:
Adulto
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Criança
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Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2020
Tipo de documento:
Artigo
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