[Figure: see text].
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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 PDFThe chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.
Proc Natl Acad Sci U S A
January 2025
Regenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON K1H 8L6.
Although chromatin remodelers are among the most important risk genes associated with neurodevelopmental disorders (NDDs), the roles of these complexes during brain development are in many cases unclear. Here, we focused on the recently discovered ChAHP chromatin remodeling complex. The zinc finger and homeodomain transcription factor ADNP is a core subunit of this complex, and de novo mutations lead to intellectual disability and autism spectrum disorder.
View Article and Find Full Text PDFThe importance of targeted next-generation sequencing based genomic profiling in the diagnosis of childhood acute myeloid leukemia: a single center experience.
Turk J Pediatr
December 2024
Department of Pediatric Hematology Oncology, Ankara Bilkent City Hospital, Ankara Yıldırım Beyazıt University, Ankara, Türkiye.
Background: The management of pediatric acute myeloid leukemia (AML) is based on the prognostic risk classification of initial leukemia. Targeted next-generation sequencing (NGS) is a reliable method used to identify recurrently mutated genes of pediatric AML and associated prognosis.
Methods: In this study, we retrospectively evaluated the prognostic, and therapeutic utility of a targeted NGS panel covering twenty-five genes, in 21 children with de novo and 8 with relapsed or secondary AML.
Pitfalls and perils from FDA-approved germ-line cancer predisposition tests.
Oncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields of oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFDirect Measurement of the Mutation Rate and Its Evolutionary Consequences in a Critically Endangered Mollusk.
Mol Biol Evol
January 2025
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, Santa Cruz, CA 95060, USA.
The rate at which mutations arise is a fundamental parameter of biology. Despite progress in measuring germline mutation rates across diverse taxa, such estimates are missing for much of Earth's biodiversity. Here, we present the first estimate of a germline mutation rate from the phylum Mollusca.
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