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Fetal Pediatr Pathol. 2018 Dec;37(6):400-403. doi: 10.1080/15513815.2018.1497113. Epub 2018 Dec 21.

Novel Mutation of SYNGAP1 Associated with Autosomal Dominant Mental Retardation 5 in a Chinese Patient.

Author information

1
a Genetic Laboratory of Shenzhen Longgang Maternal and Child Health Hospital , Guangdong , Shenzhen , China.
2
b Medical Genetic Centre of Guangdong Women and Children Hospital , Guangdong , Guangzhou , China.

Abstract

INTRODUCTION:

Autosomal dominant de novo mutations in SYNGAP1 are a cause of intellectual disability (ID) and autism spectrum disorder (ASD), including autosomal dominant mental retardation 5 (MRD5).

CASE REPORT:

By performing exome sequencing, we discovered a novel heterozygous variant in SYNGAP1 (c.509 + 1G > A) in a 4-year-old ethnic Chinese boy with ID and ASD but without seizures or malformation.

CONCLUSION:

The c.509 + 1G > A mutation in the SYNGAP1 gene was present in a patient with MRD5.

KEYWORDS:

; autosomal dominant mental retardation 5 (MRD5); exome sequencing

PMID:
30572772
DOI:
10.1080/15513815.2018.1497113
[Indexed for MEDLINE]

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