Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion
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.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:36 |
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| Enthalten in: |
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 36(2019), 6 vom: 10. Juni, Seite 628-631 |
| Sprache: |
Chinesisch |
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| Beteiligte Personen: |
Jin, Chunlei [VerfasserIn] |
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| Links: |
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| Themen: |
Journal Article |
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| Anmerkungen: |
Date Completed 13.08.2019 Date Revised 13.08.2019 published: Print Citation Status MEDLINE |
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| doi: |
10.3760/cma.j.issn.1003-9406.2019.06.025 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM296753386 |
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| 100 | 1 | |a Jin, Chunlei |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Phenotypic and genetic analysis of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion |
| 264 | 1 | |c 2019 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
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| 500 | |a Date Completed 13.08.2019 | ||
| 500 | |a Date Revised 13.08.2019 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a OBJECTIVE: To analyze the genotype and phenotype of a sibpair with partial deletion of SATB2 gene caused by 2q33.1 microdeletion | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 520 | |a 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 | ||
| 650 | 4 | |a Journal Article | |
| 650 | 7 | |a Matrix Attachment Region Binding Proteins |2 NLM | |
| 650 | 7 | |a SATB2 protein, human |2 NLM | |
| 650 | 7 | |a Transcription Factors |2 NLM | |
| 700 | 1 | |a Lei, Yongliang |e verfasserin |4 aut | |
| 700 | 1 | |a Liu, Jiao |e verfasserin |4 aut | |
| 700 | 1 | |a Shan, Qunda |e verfasserin |4 aut | |
| 700 | 1 | |a Qian, Bixia |e verfasserin |4 aut | |
| 700 | 1 | |a Zheng, Fen |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Penglong |e verfasserin |4 aut | |
| 700 | 1 | |a Bai, Junjie |e verfasserin |4 aut | |
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