Unmasking a Recessive Allele by a Rare Interstitial Deletion at 10q26.13q26.2: Prenatal Diagnosis of <scp><i>MMP21</i></scp> ‐Related Disorder and Further Refine <scp><i>INSYN2A</i></scp> Involvement in the Postnatal Cognitive Phenotype
This study introduces a recessive MMP21 mutation unmasked by a rare 10q26.13q26.2 deletion via WES in a Chinese fetus with congenital heart disease (CHD), IUGR, and microcephaly. We further refine INSYN2A as a potential candidate gene for cognitive phenotype in 10q26.1-q26.3 region. Our study also highlights the utility of WES for its advantage in simultaneously analyzing both single nucleotide variants (SNVs) and copy number variants (CNVs) and provide a reference for prenatal diagnosis and genetic counseling in patients with similar conditions.
Authors
- Xianglian Tang (ORCID: https://orcid.org/0000-0002-4101-4391)
- Peng Huang (ORCID: https://orcid.org/0000-0001-6932-6701)
- Qi Yang (ORCID: https://orcid.org/0000-0003-1849-0100)
- Sheng Yi (ORCID: https://orcid.org/0000-0002-2130-7701)
- Chaofan Zhou (ORCID: https://orcid.org/0000-0002-2095-4034)
- Shang Yi
- Yueyun Lan
- Fei Lin
- Zailong Qin (ORCID: https://orcid.org/0000-0001-7109-6693)
- Wei Li (ORCID: https://orcid.org/0000-0001-7864-404X)
- Qiang Zhang (ORCID: https://orcid.org/0000-0003-3045-4444)
- Wei Yuan (ORCID: https://orcid.org/0000-0002-1122-6481)
- Jiasun Su (ORCID: https://orcid.org/0000-0002-1944-8441)
- Shujie Zhang (ORCID: https://orcid.org/0000-0003-4880-9856)
- Xunzhao Zhou
- Minpan Huang
Institutions
- Guangxi Maternal and Child Health Hospital (CN)
- Guangxi Center for Disease Prevention and Control (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-02-01
- DOI
- https://doi.org/10.1002/mgg3.70082
- Citations
- 1
- Primary Topic
- Genomic variations and chromosomal abnormalities
- Type
- article
- Field-Weighted Citation Impact
- 1.82
Funders
- Guangxi Zhuang Region Health Department
- Guangxi Key Research and Development Program