Publications by authors named "T Paperna"
Background: Ulnar mammary syndrome (UMS) is an autosomal dominant disorder caused by heterozygous pathogenic variants in the T-box transcription factor 3 (TBX3) gene. The phenotype is classically characterized by upper limb defects and apocrine/mammary gland hypoplasia. Endocrine abnormalities include hypogonadotropic hypogonadism (HH), partial growth hormone deficiency and dysmorphic features, while ectopic pituitary gland and various congenital anomalies have also been described.
View Article and Find Full Text PDFThe Druze are a distinct group known for their close community, traditions, and consanguineous marriages, dating back to the eleventh century. This practice has led to unique genetic variations, impacting both pathology and gene-associated phenotypes. Some Druze clans, particularly those with exceptional long-lived family heads (ELLI), attracted attention.
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- Arrhythmogenic cardiomyopathy (AC) is a serious inherited heart condition caused by the replacement of heart muscle cells (cardiomyocytes) with fibrous and fatty tissue, leading to dangerous heart rhythms and potential heart failure, with genetic variants in the DSG2 gene being linked to this disease.* -
- A specific variant of DSG2, called Ser194Leu, was analyzed in a patient with AC, where advanced imaging techniques (electron microscopy) and tissue staining revealed structural abnormalities and reduced protein expression in heart cells.* -
- The findings suggest that the Ser194Leu variant is a harmful mutation contributing to arrhythmogenic left ventricular cardiomyopathy, underlining the importance of accurate genetic variant classification for patient care.*
Increasingly, next-generation sequencing (NGS) is becoming an invaluable tool in the diagnosis of unexplained acute neurological disorders, such as acute encephalopathy/encephalitis. Here, we describe a brief series of pediatric patients who presented at the pediatric intensive care unit with severe acute encephalopathy, initially suspected as infectious or inflammatory but subsequently diagnosed with a monogenic disorder. Rapid exome sequencing was performed during the initial hospitalization of three unrelated patients, and results were delivered within 7-21 days.
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- This study focused on identifying genetic factors contributing to end-stage kidney disease (ESKD) in a minority group (Druze) in Israel, where existing data on genetic causes of chronic kidney disease are limited, particularly for minority populations.
- Researchers conducted whole-exome sequencing on 94 Druze patients undergoing dialysis, discovering genetic etiologies in about 18% of participants, including a novel WDR19 variant and other known genes associated with kidney disease.
- The findings highlight the importance of genetic testing in minority groups with high rates of chronic kidney disease, suggesting that certain genetic markers may go undiagnosed without comprehensive analysis, given that clinical diagnoses often did not match the final genetic results.