American Journal of Medical Genetics Part A

Screening of a large Rubinstein–Taybi cohort identified many novel variants and emphasizes the importance of the CREBBP histone acetyltransferase domain

Abstract Pathogenic variants within the CREBBP and EP300 genes account for the majority of individuals with Rubinstein–Taybi syndrome (RSTS). Data are presented from a large cohort of 395 individuals referred for diagnostic testing of CREBBP, and of the 19 CREBBP missense variants classified as likely pathogenic in this study, 17 were within the histone acetyltransferase (HAT) domain, providing evidence that this domain is critical to the normal function of the CREBBP protein (CBP). The data presented...

American Journal of Medical Genetics Part A

Fri Aug 21, 2020 20:51

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

American Journal of Medical Genetics Part A

Fri Aug 21, 2020 20:39

A cautionary tale of pyridoxine toxicity in cystathionine beta‐synthase deficiency detected by two‐tier newborn screening highlights the need for clear pyridoxine dosing guidelines

Abstract Classic homocystinuria is due to deficiency of cystathionine beta‐synthase (CBS), a pyridoxine‐dependent enzyme that, depending on the molecular variants, may be co‐factor responsive. Elevated methionine is often used as the primary analyte to detect CBS deficiency (CBSD) on newborn screening (NBS), but is limited by increased detection of other biochemical disorders with less clear clinical significance such as methionine aminotransferase (MAT) I/III heterozygotes. Our state has implemented...

American Journal of Medical Genetics Part A

Thu Aug 20, 2020 21:58

Vestibular and audiological findings in the Alport syndrome

Abstract Alport syndrome (AS) is caused by mutations in collagen IV, which is widespread in the basement membranes of many organs, including the kidneys, eyes, and ears. Whereas the effects of collagen IV changes in the cochlea are well known, no changes have been described in the posterior labyrinth. The aim of this study was to investigate both the auditory and the vestibular function of a group of individuals with AS. Seventeen patients, aged 9–52, underwent audiological tests including pure‐tone...

American Journal of Medical Genetics Part A

Thu Aug 20, 2020 21:56

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 G3: .Genes, Genomes, Genetics Mission - Online First Articles

Recombinational Repair of Nuclease-Generated Mitotic Double-Strand Breaks with Different End Structures in Yeast

Mitotic recombination is the predominant mechanism for repairing double-strand breaks in Saccharomyces cerevisiae. Current recombination models are largely based on studies utilizing the enzyme I-SceI or HO to create a site-specific break, each of which generates broken ends with 3' overhangs. In this study sequence-diverged ectopic substrates were used to assess whether the frequent Pol -mediated removal of a mismatch 8 nucleotides from a 3' end affects recombination outcomes and whether the presence...

G3: .Genes, Genomes, Genetics Mission - Online First Articles

Sat Aug 22, 2020 00:58

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 Gene Expression Patterns

The modular expression patterns of three pigmentation genes prefigure unique abdominal morphologies seen among three <em>Drosophila</em> species

Publication date: Available online 21 August 2020Source: Gene Expression PatternsAuthor(s): William A. Dion, Mujeeb O. Shittu, Tessa E. Steenwinkel, Komal K.B. Raja, Prajakta P. Kokate, Thomas Werner

Gene Expression Patterns

Fri Aug 21, 2020 17:56

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