Publications by authors named "D N Azmanov"

Background: Genomic sequencing technology allows for identification of reproductive couples with an increased chance, as compared with that in the general population, of having a child with an autosomal recessive or X-linked genetic condition.

Methods: We investigated the feasibility, acceptability, and outcomes of a nationwide, couple-based genetic carrier screening program in Australia as part of the Mackenzie's Mission project. Health care providers offered screening to persons before pregnancy or early in pregnancy.

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Missense variants in underlie neurodevelopmental conditions such as Angelman Syndrome and Autism Spectrum Disorder, but the underlying molecular pathological consequences on protein folding and function are poorly understood. Here, we report a novel, maternally inherited, likely pathogenic missense variant in (NM_000462.4(UBE3A_v001):(c.

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Article Synopsis
  • The study focuses on "episignatures," which are unique DNA methylation patterns used as biomarkers for diagnosing various genetic syndromes, particularly neurodevelopmental disorders.
  • Researchers analyzed DNA methylation changes in 65 genetic syndromes, identifying specific differentially methylated probes (DMPs) and regions (DMRs) associated with these conditions.
  • Findings indicated that DMPs and DMRs were mostly located in gene promoters and pathways related to neurodevelopment, highlighting a connection between gene mutations and altered DNA methylation profiles in these disorders.
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We report a female child with PCDH19 related developmental and epileptic encephalopathy with drug-resistant seizures, cognitive and language impairment, autism spectrum disorder and sleep dysfunction. Her seizures, which started at 10 months of age, were resistant to multiple anti-seizure medications. Developmental stagnation followed by regression occurred after the onset of recurrent seizures.

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Overlapping clinical phenotypes and an expanding breadth and complexity of genomic associations are a growing challenge in the diagnosis and clinical management of Mendelian disorders. The functional consequences and clinical impacts of genomic variation may involve unique, disorder-specific, genomic DNA methylation episignatures. In this study, we describe 19 novel episignature disorders and compare the findings alongside 38 previously established episignatures for a total of 57 episignatures associated with 65 genetic syndromes.

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