Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion.
10.3760/cma.j.issn.1003-9406.2019.06.025
- VernacularTitle:2q33.1微缺失致SATB2基因部分缺失兄妹的表型及遗传学分析
- Author:
Chunlei JIN
1
;
Yongliang LEI
1
;
Jiao LIU
1
;
Qunda SHAN
1
;
Bixia QIAN
1
;
Fen ZHENG
1
;
Penglong CHEN
1
;
Junjie BAI
2
Author Information
1. Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Zhejiang 323000, China. Email: lsfbjcl4963@163.com.
2. Be creative Lab (Beijing) Co., Ltd., Beijing 101111, China.
- Publication Type:Journal Article
- MeSH:
Child;
Chromosome Deletion;
Chromosome Disorders;
Chromosomes, Human, Pair 2;
Genetic Testing;
Humans;
Karyotyping;
Matrix Attachment Region Binding Proteins;
genetics;
Phenotype;
Transcription Factors;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(6):628-631
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion.
METHODS:Both children have featured mental retardation and development delay, and were subjected to karyotyping, single nucleotide microarray (SNP array) and real-time fluorescence quantitative PCR analysis. Karyotyping and SNP Array analysis were also carried out on their parents to verify the origin of mutation.
RESULTS:Both sibs had a normal karyotype. SNP array showed that sib 1 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663 - 218 816 675)×3 (711 kb), while sib 2 had arr[hg19]2q33.1(200 192 328 - 200 197 269)×1 (4.9 kb), 2q35 (218 105 663-218 810 908)×3 (705.2 kb). The deletion has partially overlapped with that of 2q33.1 microdeletion syndrome and involved part of the SATB2 gene. The result of real-time fluorescence quantitative PCR assay was consistent with that of SNP assay. The duplication has originated from their father and has not been associated with any disease phenotypen.
CONCLUSION:Both sibs have carried partial deletion of SATB2 gene and had similar clinical phenotypes. Haploinsufficiency of such gene probably underlies the clinical manifestations in both patients.
