5 results match your criteria: "The Genetic Institute of Maccabi Health Medicinal Organization[Affiliation]"
Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene.
Clin Genet
June 2024
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel.
The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095), a rare skeletal dysplasia, characterized by prenatal rhizomelic shortening of limbs and generalized joint hypermobility. Affected individuals usually have normal neurodevelopmental milestones. Here we present three cases from the same family with likely pathogenic homozygous POP1 variant and a completely novel phenotype: a girl with global developmental delay and autism, microcephaly, peculiar dysmorphic features and multiple congenital anomalies.
View Article and Find Full Text PDFVariants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.
Invest Ophthalmol Vis Sci
October 2023
Department of Ophthalmology, Shamir Medical Center, Zerifin, Israel.
Article Synopsis
- * Both families showed early-onset bilateral optic atrophy in male siblings, with mild symptoms in carrier females, indicating X-linked inheritance.
- * Novel pathogenic variants in the WDR45 gene were identified, showing full segregation with the disease, linking it to isolated X-linked optic atrophy.
Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.
Am J Med Genet A
July 2022
The Genetic Institute of Maccabi Health Medicinal Organization, Tel-Aviv, Israel.
Article Synopsis
- Interstitial deletions of the 16q24.1-q24.2 region are linked to serious health issues, including alveolar capillary dysplasia, renal malformations, and neurodevelopmental disorders.
- A case study is presented of a boy who has congenital lymphedema, distichiasis, hydronephrosis, and developmental delays due to a new microdeletion at this chromosome location.
- This finding adds to our understanding of both the 16q24.1-q24.2 microdeletion syndrome and Lymphedema-Distichiasis syndrome, specifically indicating that the deletion affects the 3'-UTR region of the FOXC2 gene.
Background: Most studies on chromosomal microarray analysis (CMA) and amniocentesis risks have not evaluated pregnancies with low risk for genetic diseases; therefore, the efficacy and safety of CMA and amniocentesis in this population are unclear. This study aimed to examine the benefits and risks of prenatal genetic diagnostic tests in pregnancies having low risk for chromosomal diseases.
Methods And Findings: In this retrospective study, we used clinical data from a large database of 30,830 singleton pregnancies at gestational age 16-23 weeks who underwent amniocentesis for karyotyping with or without CMA.
Grandparental genotyping enhances exome variant interpretation.
Am J Med Genet A
April 2020
Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
Trio exome sequencing is a powerful tool in the molecular investigation of monogenic disorders and provides an incremental diagnostic yield over proband-only sequencing, mainly due to the rapid identification of de novo disease-causing variants. However, heterozygous variants inherited from unaffected parents may be inadvertently dismissed, although multiple explanations are available for such scenarios including mosaicism in the parent, incomplete penetrance, imprinting, or skewed X-inactivation. We report three probands, in which a pathogenic or likely pathogenic variant was identified upon exome sequencing, yet was inherited from an unaffected parent.
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