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Pedigree analysis and prenatal diagnosis of intellectual disability caused by synonymous mutations of p.S434S in DLG3 gene / 中华围产医学杂志
Chinese Journal of Perinatal Medicine ; (12): 42-47, 2022.
Article in Chinese | WPRIM | ID: wpr-933879
ABSTRACT

Objective:

To analyze the pathogenic gene and prenatal diagnosis of a family with intellectual disability.

Methods:

Out of this family consisting of 17 members in three generations, four males had intellectual disability. The proband's elder sister (Ⅱ-7) visited Henan Provincial People's Hospital in Oct 2019 for genetic counseling at 8 weeks of gestation. After informed consent was obtained, peripheral blood samples of the family members were collected. The whole exome sequencing was performed on the genome DNA of the proband (Ⅱ-9, male) and his parents to screen the candidate variants for phenotype co-segregated analysis by Sanger sequencing. The expression vectors were constructed by homologous recombination and the splicing experiments were performed in vitro. Reverse transcription polymerase chain reaction, Sanger sequencing, and TA clone sequencing were used to analyze the effect of candidate variants on splicing. After the pathogenic variant was determined the proband's elder sister underwent prenatal diagnosis (Ⅲ-7) using goldeneyeTM20A genotyping system and Sanger sequencing.

Results:

A hemizygous synonymous variant of c.1302G>A (p. S434S) in DLG3 gene was found in the proband by whole exome sequencing, which was carried by his mother (Ⅰ-1) and co-segregated with the phenotype in other family patients. In vitro splicing experiment showed that c.1302G>A variant led to abnormal splicing of 88.24% transcripts, which further resulted in the reading frame shift and protein function impairment. The mutation was not detected in the fetus (Ⅲ-7), who was born alive later and showed no abnormal mental or behavioral development at the age of one and a half year and is still being followed up.

Conclusions:

The synonymous mutation c.1302G>A in DLG3 gene was the etiopathogenesis of X-linked intellectual disability in this family.

Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study Language: Chinese Journal: Chinese Journal of Perinatal Medicine Year: 2022 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Type of study: Diagnostic study Language: Chinese Journal: Chinese Journal of Perinatal Medicine Year: 2022 Type: Article