Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome
Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array...
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Frontiers Media S.A.
2019-07-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fgene.2019.00630/full |
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| author | Yeqing Qian Yeqing Qian Jiao Liu Yanmei Yang Yanmei Yang Min Chen Min Chen Chunlei Jin Penglong Chen Yongliang Lei Hangyi Pan Hangyi Pan Minyue Dong Minyue Dong |
| author_facet | Yeqing Qian Yeqing Qian Jiao Liu Yanmei Yang Yanmei Yang Min Chen Min Chen Chunlei Jin Penglong Chen Yongliang Lei Hangyi Pan Hangyi Pan Minyue Dong Minyue Dong |
| author_sort | Yeqing Qian |
| collection | DOAJ |
| description | Mutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array identified a 4.9-kb deletion in the SATB2 gene in two consecutive siblings exhibiting obvious developmental delay and dental abnormalities but failed to find so in their parents. Prenatal diagnosis revealed that their third child carried the same deletion in SATB2 and the pregnancy was terminated. To determine the genetic causes behind the inheritance of SATB2 deletion, gap-PCR was performed on peripheral blood-derived genomic DNA of the family and semen-derived DNA from the father. Gap-PCR that revealed the deletions in the two affected siblings were inherited from the father, while the less intense mutant band indicated the mosaicism of this mutation in the father. The deletion was 3,013 bp in size, spanning from chr2: 200,191,313-200,194,324 (hg19), and covering the entire exon 9 and part of intron 8 and 9 sequences. Droplet digital PCR demonstrated mosaicism percentage of 13.2% and 16.7% in peripheral blood-derived genomic DNA and semen-derived DNA of the father, respectively. Hereby, we describe a family of special AT-rich sequence-binding protein 2-associated syndrome caused by paternal low-level mosaicism and provide effective diagnostic technologies for intragenic deletions. |
| first_indexed | 2024-12-22T05:28:09Z |
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| id | doaj.art-6d1b3b8fb4ee49688f25817f2abd87db |
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| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-22T05:28:09Z |
| publishDate | 2019-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-6d1b3b8fb4ee49688f25817f2abd87db2022-12-21T18:37:31ZengFrontiers Media S.A.Frontiers in Genetics1664-80212019-07-011010.3389/fgene.2019.00630459729Paternal Low-Level Mosaicism-Caused SATB2-Associated SyndromeYeqing Qian0Yeqing Qian1Jiao Liu2Yanmei Yang3Yanmei Yang4Min Chen5Min Chen6Chunlei Jin7Penglong Chen8Yongliang Lei9Hangyi Pan10Hangyi Pan11Minyue Dong12Minyue Dong13Women’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaPrenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaPrenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, ChinaPrenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, ChinaPrenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaWomen’s Hospital, School of Medicine Zhejiang University, Hangzhou, ChinaKey Laboratory of Reproductive Genetics (Zhejiang University), Ministry of Education, Hangzhou, ChinaMutations of SATB2 (OMIM#608148) gene at 2q33.1 have been associated with the autosomal dominant SATB2-associated syndrome (SAS), which is still short of comprehensive diagnosis technologies for small deletions and low-level mosaicism. In this Chinese Han family, single nucleotide polymorphism array identified a 4.9-kb deletion in the SATB2 gene in two consecutive siblings exhibiting obvious developmental delay and dental abnormalities but failed to find so in their parents. Prenatal diagnosis revealed that their third child carried the same deletion in SATB2 and the pregnancy was terminated. To determine the genetic causes behind the inheritance of SATB2 deletion, gap-PCR was performed on peripheral blood-derived genomic DNA of the family and semen-derived DNA from the father. Gap-PCR that revealed the deletions in the two affected siblings were inherited from the father, while the less intense mutant band indicated the mosaicism of this mutation in the father. The deletion was 3,013 bp in size, spanning from chr2: 200,191,313-200,194,324 (hg19), and covering the entire exon 9 and part of intron 8 and 9 sequences. Droplet digital PCR demonstrated mosaicism percentage of 13.2% and 16.7% in peripheral blood-derived genomic DNA and semen-derived DNA of the father, respectively. Hereby, we describe a family of special AT-rich sequence-binding protein 2-associated syndrome caused by paternal low-level mosaicism and provide effective diagnostic technologies for intragenic deletions.https://www.frontiersin.org/article/10.3389/fgene.2019.00630/fullSATB2-associated syndromechromosome microarray analysismosaicismdroplet digital PCRgap-PCR |
| spellingShingle | Yeqing Qian Yeqing Qian Jiao Liu Yanmei Yang Yanmei Yang Min Chen Min Chen Chunlei Jin Penglong Chen Yongliang Lei Hangyi Pan Hangyi Pan Minyue Dong Minyue Dong Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome Frontiers in Genetics SATB2-associated syndrome chromosome microarray analysis mosaicism droplet digital PCR gap-PCR |
| title | Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome |
| title_full | Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome |
| title_fullStr | Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome |
| title_full_unstemmed | Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome |
| title_short | Paternal Low-Level Mosaicism-Caused SATB2-Associated Syndrome |
| title_sort | paternal low level mosaicism caused satb2 associated syndrome |
| topic | SATB2-associated syndrome chromosome microarray analysis mosaicism droplet digital PCR gap-PCR |
| url | https://www.frontiersin.org/article/10.3389/fgene.2019.00630/full |
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