Publications by authors named "Noy Azoulay"
Utilizing trio whole-exome sequencing and a gene matching approach, we identified a cohort of 18 male individuals from 17 families with hemizygous variants in KCND1, including two de novo missense variants, three maternally inherited protein-truncating variants, and 12 maternally inherited missense variants. Affected subjects present with a neurodevelopmental disorder characterized by diverse neurological abnormalities, mostly delays in different developmental domains, but also distinct neuropsychiatric signs and epilepsy. Heterozygous carrier mothers are clinically unaffected.
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- POT1 is an important gene involved in protecting and regulating the length of telomeres, and mutations in this gene can increase cancer risk, particularly for melanoma and chronic lymphocytic leukemia (CLL).
- A specific mutation, p.(I78T), has been identified as a common pathogenic variant among Ashkenazi Jews, linked to a range of cancers and recurrent melanoma in individuals aged 25 to 67.
- Research suggests that this variant should be included in genetic testing for high-risk patients of Ashkenazi Jewish descent due to its association with early-onset severe cancers.
Objective: Data on the value of exome sequencing in fetuses with no structural anomalies are limited, especially in the early stages of pregnancy and in low risk pregnancies. We investigated the yield of targeted clinical prenatal trio exome sequencing (pES) in pregnancies with and without fetal structural anomalies.
Methods: We performed pES in 353 pregnancies: Group 1 included 143 pregnancies with high clinical suspicion for a genetic disease: pregnancies with increased nuchal translucency, ultrasound structural defects, intrauterine growth restriction, polyhydramnios, or effusion/nuchal edema.