Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)
Abstract Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerg...
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Wiley
2020-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
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| Online Access: | https://doi.org/10.1002/mgg3.1335 |
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| author | Ying Dai Yongjuan Wei Yuanyuan Chen Hui Guo Min Zhong |
| author_facet | Ying Dai Yongjuan Wei Yuanyuan Chen Hui Guo Min Zhong |
| author_sort | Ying Dai |
| collection | DOAJ |
| description | Abstract Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful in identifying these genetic causes. Methods We enrolled two girl siblings with ID. Trio whole‐exome sequencing (WES) and Copy number variation sequencing (CNV‐Seq) were performed for genetic molecular analysis in these probands and their parents. The parents also accepted high‐resolution G‐banded karyotype studies. Results No significant homozygous or heterozygous variants were identified through WES. By CNV‐seq, we identified an abnormal 3p26.3p25.3 microdeletion and 14q32.13q32.33 microduplication in the two girl siblings but not in their parents. A balanced translocation 46, XX, t (3, 14) (p25; q32) was found in their mother. Conclusion The affected siblings have similar phenotype, including ID, short stature, and microcephaly. Their mother had a history of seven first‐trimester miscarriages and one elective termination because of multiple malformations. This abnormal karyotype was also thought to be responsible for the mother's recurrent miscarriage. WES in combination with CNV‐seq analysis is very helpful for identification of the genetic causes of ID without positive karyotype findings. |
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| id | doaj.art-0a98d542abba40f2abd1932c2b4e730b |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:15:37Z |
| publishDate | 2020-08-01 |
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| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-0a98d542abba40f2abd1932c2b4e730b2024-02-21T11:08:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-08-0188n/an/a10.1002/mgg3.1335Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32)Ying Dai0Yongjuan Wei1Yuanyuan Chen2Hui Guo3Min Zhong4Department of Primary Child Health Care Children’s Hospital of Chongqing Medical University Chongqing ChinaPediatric Research InstituteChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Engineering Research Center of Stem Cell TherapyMinistry of Education Key Laboratory of Child Development and Disorders Chongqing ChinaPediatric Research InstituteChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Engineering Research Center of Stem Cell TherapyMinistry of Education Key Laboratory of Child Development and Disorders Chongqing ChinaDepartment of Pediatric Qianjiang Central Hospital of Chongqing Chongqing ChinaPediatric Research InstituteChina International Science and Technology Cooperation Base of Child Development and Critical DisordersChongqing Engineering Research Center of Stem Cell TherapyMinistry of Education Key Laboratory of Child Development and Disorders Chongqing ChinaAbstract Background Genetic factors associated with intellectual disability (ID) include chromosomal aberrations, copy number variations (CNVs), and pathogenic variants. Identifying the genetic etiologies is beneficial for patient classification, therapy, management, and prognostic evaluation. Emerging genetic tests are helpful in identifying these genetic causes. Methods We enrolled two girl siblings with ID. Trio whole‐exome sequencing (WES) and Copy number variation sequencing (CNV‐Seq) were performed for genetic molecular analysis in these probands and their parents. The parents also accepted high‐resolution G‐banded karyotype studies. Results No significant homozygous or heterozygous variants were identified through WES. By CNV‐seq, we identified an abnormal 3p26.3p25.3 microdeletion and 14q32.13q32.33 microduplication in the two girl siblings but not in their parents. A balanced translocation 46, XX, t (3, 14) (p25; q32) was found in their mother. Conclusion The affected siblings have similar phenotype, including ID, short stature, and microcephaly. Their mother had a history of seven first‐trimester miscarriages and one elective termination because of multiple malformations. This abnormal karyotype was also thought to be responsible for the mother's recurrent miscarriage. WES in combination with CNV‐seq analysis is very helpful for identification of the genetic causes of ID without positive karyotype findings.https://doi.org/10.1002/mgg3.1335balanced translocationcopy number variationsintellectual disabilitymiscarriagewhole‐exome sequencing |
| spellingShingle | Ying Dai Yongjuan Wei Yuanyuan Chen Hui Guo Min Zhong Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) Molecular Genetics & Genomic Medicine balanced translocation copy number variations intellectual disability miscarriage whole‐exome sequencing |
| title | Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) |
| title_full | Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) |
| title_fullStr | Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) |
| title_full_unstemmed | Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) |
| title_short | Intellectual disability in two Chinese sisters caused by a 3p26.3p25.3 microdeletion and a 14q32.13q32.33 microduplication inherited from the mother with 46, XX, t (3, 14) (p25; q32) |
| title_sort | intellectual disability in two chinese sisters caused by a 3p26 3p25 3 microdeletion and a 14q32 13q32 33 microduplication inherited from the mother with 46 xx t 3 14 p25 q32 |
| topic | balanced translocation copy number variations intellectual disability miscarriage whole‐exome sequencing |
| url | https://doi.org/10.1002/mgg3.1335 |
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