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Date Published: 17/02/2023
Abstract Views: 251
Views PDF: 164
DOI: https://doi.org/10.51298/vmj.v520i2.4191
Issue
Vol. 520 No. 2 (2022)
Section
Các bài báo
How to Cite
Nguyễn, T. N., Hoàng, T. N. L., Nguyễn, T. T. M., Hoàng, T. L. ., Nguyễn, T. M. N., & Lương, T. L. A. (2023). A CASE REPORT OF FAMILIAL IQSEC2 - RELATED MENTAL RETARDATION. Vietnam Medical Journal, 520(2). https://doi.org/10.51298/vmj.v520i2.4191

A CASE REPORT OF FAMILIAL IQSEC2 - RELATED MENTAL RETARDATION

Thu Nga Nguyễn1, Thị Ngọc Lan Hoàng1,2, Thị Thanh Mai Nguyễn1, Thu Lan Hoàng1,3, Thị Minh Ngọc Nguyễn2, Thị Lan Anh Lương1,3,
1 Hanoi medical university
2 Hanoi medical university hospital
3 Hanoi medical unversity hospital

Main Article Content

Abstract

Mental retardation (MR) is a condition characterized by significant limitations in both intellectual functioning and adaptive behavior, originating before the age of 18. Mutations in the IQSEC2 gene located on the X chromosome have been known to be one of the causes of MR, which may be associated with other neurological and psychiatric abnormalities. Our study reports a missense variant located on exon 5 of the IQSEC2 gene, NM_001111125.3: c.2278G>A, in a family with two brothers expressing MR, using clinical exome sequencing. The mutation in the hemizygous form of the two brothers is inherited from the heterozygous mother. This result helps the patient's family obtain information that can be applied in prenatal screening and diagnosis in future pregnancies. Furthermore, the study contributes additional data on IQSEC2 gene variation in the population of MR patients in Vietnam, which is a decisive basis for genetic diagnosis, genetic counseling, and management of patients.

Article Details

Keywords

Mental retardation, IQSEC2 gene

References

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