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.
Article
en Zh
| WPRIM
| ID: wpr-879505
Biblioteca responsable:
WPRO
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:
1
Banco de datos:
WPRIM
Asunto principal:
Anomalías Múltiples
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Catarata
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Atrofia Óptica
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Córnea
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Proteínas de Unión al GTP rab3
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Secuenciación del Exoma
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Hipogonadismo
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Discapacidad Intelectual
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Microcefalia
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Mutación
Límite:
Adult
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Child
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Female
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Humans
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Male
Idioma:
Zh
Año:
2020
Tipo del documento:
Article