A Whole MED12 Gene Deletion in a Female Fetus With Features Encountered in Hardikar Syndrome.

Autor: Wu L; Department of Medical Genetics and Prenatal Diagnosis, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China., Xu J; Department of Medical Ultrasonics, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China., Cong X; Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.; Genetic Department, Longgang District Key Laboratory for Birth Defects Prevention, Shenzhen, China., Zhang T; Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.; Genetic Department, Longgang District Key Laboratory for Birth Defects Prevention, Shenzhen, China., Pei Y; Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.; Genetic Department, Longgang District Key Laboratory for Birth Defects Prevention, Shenzhen, China., Liu J; Department of Medical Ultrasonics, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China., Zheng H; Department of Medical Ultrasonics, Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China., Liu W; Central Lab (Genetics Lab), Longgang District Maternity & Child Healthcare Hospital of Shenzhen City (Longgang Maternity and Child Institute of Shantou University Medical College), Shenzhen, China.; Genetic Department, Longgang District Key Laboratory for Birth Defects Prevention, Shenzhen, China.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 Dec 19. Date of Electronic Publication: 2024 Dec 19.
DOI: 10.1002/pd.6733
Abstrakt: 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 +4  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.
(© 2024 John Wiley & Sons Ltd.)
Databáze: MEDLINE
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