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Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
J Hum Genet
January 2025
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, Japan.
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of triple mosaic variants in PURA, a gene responsible for a neurodevelopmental syndrome (OMIM# 616158). Whole-exome sequencing identified three somatic PURA variants in our case with a similar neurodevelopmental syndrome: NM_005859.
View Article and Find Full Text PDFDeep learning-based assessment of missense variants in the gene presented with bilateral congenital cataract.
BMJ Open Ophthalmol
January 2025
Eye Institute and Department of Ophthalmology, Eye & ENT Hospital, Fudan University, Shanghai, China
Objective: We compared the protein structure and pathogenicity of clinically relevant variants of the gene with AlphaFold2 (AF2), Alpha Missense (AM), and ThermoMPNN for the first time.
Methods And Analysis: The sequences of clinically relevant Cog4 missense variants (one novel identified p.Y714F and three pre-existing p.
Objectives: This study aimed to assess the role of olfactory sulci (OS) in diagnosing CHARGE syndrome among fetuses with major congenital heart defects (CHDs).
Methods: We prospectively evaluated OS development in fetuses diagnosed with CHDs from 2017 to 2021. Neurosonography (NSG) was performed using transabdominal and transvaginal approaches after 30 weeks of gestation.
Biallelic variants in AGRN with recurrent pregnancy losses in a family with a fetal akinesia deformation sequence.
Clin Dysmorphol
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Introduction: Agrin, encoded by AGRN, plays a vital role in the acetylcholine receptor clustering pathway, and any defects in this pathway are known to cause congenital myasthenic syndrome (CMS) 8 in early childhood with variable fatigable muscle weakness. The most severe or lethal form of CMS manifests as a fetal akinesia deformation sequence (FADS). To date, only one family has been reported with an association of null variants in AGRN and a lethal FADS.
View Article and Find Full Text PDFInsights into pituitary stalk interruption syndrome: 2 cases that illuminate the condition.
Radiol Case Rep
March 2025
Pediatric Radiology Department, Children's Hospital, University Mohammed V of Rabat, Rabat, Morocco.
Pituitary stalk interruption syndrome (PSIS) is a congenital anatomical defect that leads to pituitary insufficiency, The symptoms are diverse, often leading to diagnostic delays or even misdiagnosis. MRI plays a crucial role in establishing an accurate diagnosis by revealing a characteristic radiological triad: a thin or absent pituitary stalk, an ectopic or missing posterior pituitary gland, and anterior pituitary hypoplasia. We herein describe 2 cases: 1 involving a 9-year-old boy and the other an 11-year-old girl, both diagnosed with PSIS.
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