AI Article Synopsis
- Chromosomal analysis using CMA, MS-MLPA, and trio-WES was conducted on a female fetus with omphalocele, identifying a new 300-kb deletion in the Xq13.1 region affecting the MED12 gene.
- An ultrasound at 18 weeks showed features indicative of Hardikar syndrome, such as cleft lip and palate, diaphragmatic hernia, and heart displacement.
- The findings suggest that the deletion of the MED12 gene may play a critical role in the development of Hardikar syndrome, highlighting the potential impact of haploinsufficiency of this gene.
Article Abstract
Chromosomal microarray analysis (CMA), methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA), and trio-whole exome sequencing (WES) were performed in a female fetus with omphalocele. A de novo heterozygous 300-kb deletion in the Xq13.1 region, which includes the MED12 gene, was identified. Follow-up ultrasound at 18 weeks of gestation revealed features consistent with Hardikar syndrome (HS), including a right-sided cleft lip and palate, an omphalocele with intestines, a diaphragmatic hernia with the stomach in the left thoracic cavity, and displacement of the heart to the right. Phenotypic evaluation confirmed the presence of a cleft lip and palate as well as umbilical hernia. These findings suggest that a heterozygous deletion of the entire MED12 gene may contribute to the HS phenotype. This case extends the possible damaging effects of haploinsufficiency of the MED12 gene in the pathogenesis of HS.
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| http://dx.doi.org/10.1002/pd.6733 | DOI Listing |
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