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
ي Zh
| WPRIM
| ID: wpr-879505
المكتبة المسؤولة:
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.
النص الكامل:
1
الفهرس:
WPRIM
الموضوع الرئيسي:
Abnormalities, Multiple
/
Cataract
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Optic Atrophy
/
Cornea
/
Rab3 GTP-Binding Proteins
/
Exome Sequencing
/
Hypogonadism
/
Intellectual Disability
/
Microcephaly
/
Mutation
المحددات:
Adult
/
Child
/
Female
/
Humans
/
Male
اللغة:
Zh
مجلة:
Chinese Journal of Medical Genetics
السنة:
2020
نوع:
Article