Publications by authors named "A Shaag"
Article Synopsis
- * Out of 412 newborns flagged positive for IVA in a large screening in Israel, 371 were false positives, and only 38 confirmedIVA—with 32% being symptomatic and 68% asymptomatic, many of whom have a specific mild variant.
- * The study introduced a new screening algorithm that better distinguishes between symptomatic and asymptomatic cases, aiming to reduce unnecessary treatment and focus on those at higher risk for severe outcomes.
Cholesterol is essential in the brain from the earliest stages of embryonic development. Disruption of cholesterol synthesis pathways that leads to cholesterol deficiency underlies a few syndromes, including desmosterolosis and Smith-Lemli-Opitz syndrome. In both syndromes, brain anomalies can occur.
View Article and Find Full Text PDFContext: The hyperinsulinism/hyperammonemia (HI/HA) syndrome, the second-most common form of congenital hyperinsulinism, has been associated with dominant mutations in GLUD1, coding for the mitochondrial enzyme glutamate dehydrogenase, that increase enzyme activity by reducing its sensitivity to allosteric inhibition by GTP.
Objective: To identify the underlying genetic etiology in 2 siblings who presented with the biochemical features of HI/HA syndrome but did not carry pathogenic variants in GLUD1, and to determine the functional impact of the newly identified mutation.
Methods: The patients were investigated by whole exome sequencing.
Objective: To explain the importance of identifying an etiology for the pathological finding of nonimmune hydrops fetalis (NIHF) and to explore the impact of exome sequencing in recurrent NIHF. In addition, we present two cases of pregnancies affected with recurrent NIHF, in which genetic investigation was advantageous.
Methods: Our study aimed to investigate the genetic background, if available, of all fetuses with NIHF referred to our tertiary medical center from January 2013 to August 2020.
Article Synopsis
- Isolated defects in mitochondrial respiratory chain complex II (CII) are rare and usually stem from mutations in nuclear-encoded subunits such as SDHA, SDHB, and SDHD.
- A case study of an adolescent female with developmental delay, intellectual disability, and optic atrophy revealed a novel mutation, c.1984C > T, in the SDHA gene through whole exome sequencing.
- The research indicates that this specific mutation reduces CII activity significantly, highlighting the need to include SDHA in genetic testing for optic atrophy to improve diagnosis and understanding of related disorders.