Publications by authors named "J Murotsuki"
Article Synopsis
- * Schwartz-Jampel syndrome (SJS), also caused by HSPG2 mutations, is related to DDSH, with 44 variants reported in SJS and 8 in DDSH.
- * Recent findings show that five DDRD patients had four pathogenic variants in HSPG2, highlighting a common genetic background, connecting SJS, DDRD, and DDSH as allelic disorders.
Constitutional complex chromosomal rearrangements (CCRs) are rare cytogenetic aberrations arising in the germline via an unknown mechanism. Here we analyzed the breakpoint junctions of microscopically three-way or more complex translocations using comprehensive genomic and epigenomic analyses. All of these translocation junctions showed submicroscopic genomic complexity reminiscent of chromothripsis.
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- * There are over 400 genetic skeletal disorders, but clinical practice usually encounters only a few; non-invasive prenatal genetic testing has improved prenatal diagnosis but imaging remains essential for accurate diagnoses.
- * Limb shortening often raises suspicion for bone dysplasias during screening ultrasounds, prompting further assessments with advanced imaging techniques like ultrasound, MRI, and CT to aid in decision-making.
Objectives: To evaluate neonatal outcomes after the use of a cervical pessary in Japanese women with short cervical length (CL) less than 25 mm.
Methods: This multicenter study involved women with singleton pregnancies between 20 and 29+6 gestational weeks and a CL of less than 25 mm. The primary outcome was preterm birth (PTB) before 34 weeks of gestation.
Aim: We aimed to evaluate the sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of noninvasive prenatal testing (NIPT) in high-risk pregnant women.
Methods: Pregnant women who underwent GeneTech NIPT, the most commonly used NIPT in Japan, between January 2015 and March 2019, at Japan NIPT Consortium medical sites were recruited for this study. The exclusion criteria were as follows: pregnant women with missing survey items, multiple pregnancy/vanishing twins, chromosomal abnormalities in the fetus other than the NIPT target disease, and nonreportable NIPT results.