Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71

Bazgir, Afsaneh; Agha Gholizadeh, Mehdi; Kahani, Seyyed Mohammad; Tavasoli, Ali Reza; Garshasbi, Masoud

doi:10.1007/s10048-024-00753-z

Neurogenetics

2024

DOI: 10.1007/s10048-024-00753-z

|View full text |Cite

Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71

Afsaneh Bazgir,

Mehdi Agha Gholizadeh,

Seyyed Mohammad Kahani

et al.

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...

Citation Types

Supporting

Mentioning

Contrasting

Year Published

2024

Publication Types

Select...

Article1

Relationship

Self Cite0

Independent1

Authors

Journals

Cited by 1 publication

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities

Qin,

Liu,

Wang

et al. 2024

Br J Hosp Med

View full text Add to dashboard Cite

Aims/Background Prenatal diagnosis is a crucial tool in reducing birth defects. Research indicates that whole-exome sequencing (WES) is particularly effective for detecting abnormalities associated with structural ultrasound findings. This study aimed to evaluate the utility of WES in the genetic diagnosis of prenatal ultrasound abnormalities. Methods A total of 50 pregnant women with prenatal ultrasound abnormalities, diagnosed at Rizhao People’s Hospital between January 2023 and May 2024, were enrolled. Amniocytes, abortion tissues, and peripheral blood samples from the couples were collected for family-based WES. Results WES revealed genetic abnormalities in 20 out of 50 cases, resulting in a detection rate of 40%. The detection rates for specific abnormalities were as follows: skeletal abnormalities (41.7%), cardiovascular abnormalities (54.5%), central nervous system abnormalities (30%), urinary system abnormalities (50%), nuchal translucency thickening/hygroma colli (20%), and facial anomalies/cleft lip and palate (25%). The genetic detection rates for monosystemic and multisystemic abnormalities were 34.2% and 50%, respectively. Conclusion WES is crucial in the genetic diagnosis of prenatal ultrasound abnormalities, enhancing the accuracy of prenatal diagnostics and facilitating informed genetic counseling.

show abstract

Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities

Qin,

Liu,

Wang

et al. 2024

Br J Hosp Med

View full text Add to dashboard Cite

show abstract

scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.

Contact Info

customersupport@researchsolutions.com

10624 S. Eastern Ave., Ste. A-614

Henderson, NV 89052, USA

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

Blog Terms and Conditions API Terms Privacy Policy Contact Cookie Preferences Do Not Sell or Share My Personal Information

Made with 💙 for researchers

Part of the Research Solutions Family.

Identification of a Novel Homozygous GLS Gene Variant Associated with Developmental and Epileptic Encephalopathy (DEE) Type 71

Cited by 1 publication

References 20 publications

Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities

Application of Whole-Exome Sequencing in the Genetic Diagnosis of Prenatal Ultrasound Abnormalities

Contact Info

Product

Resources

About