Publications by authors named "Nobuko Nishioka"

4 Publications

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Nonsense variants of result in distinct congenital anomalies.

Hum Genome Var 2020 18;7:26. Epub 2020 Sep 18.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

Herein, we report two female cases with novel nonsense mutations of at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.
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http://dx.doi.org/10.1038/s41439-020-00114-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7501222PMC
September 2020

Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2020 09;65(9):811

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.
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http://dx.doi.org/10.1038/s10038-020-0782-2DOI Listing
September 2020

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes.

J Hum Genet 2019 May 14;64(5):487-492. Epub 2019 Feb 14.

Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

We herein report two individuals with novel nonsense mutations in STAG2 on Xq25, encoding stromal antigen 2, a component of the cohesion complex. A male fetus (Case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. Another female patient (Case 2) showed a distinct phenotype with white matter hypoplasia, cleft palate, developmental delay (DD), and intellectual disability (ID) at 7 years. Whole-exome sequencing identified de novo nonsense mutations in STAG2: c.3097C>T, p.(Arg1033*) in Case 1 and c.2229G>A, p.(Trp743*) in Case 2. X-inactivation was highly skewed in Case 2. To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. Although Case 2 showed similar clinical features to the reported female patients with STAG2 abnormalities, Case 1 showed an extremely severe phenotype, which could be explained by the first detected truncating variant in males.
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http://dx.doi.org/10.1038/s10038-019-0571-yDOI Listing
May 2019

Effect of hypoxia on the auditory system of goat fetuses during extrauterine incubation.

J Obstet Gynaecol Res 2003 Apr;29(2):109-14

Department of Obstetrics and Gynecology, Juntendo University School of Medicine, Tokyo, Japan.

Aim: To investigate the effect of hypoxia on the auditory system in fetuses, we attempted to analyze the auditory brainstem response, the middle latency response, and changes of several physiological parameters of goat fetuses during extrauterine incubation.

Methods: We conducted extrauterine incubation of five goat fetuses at around 127days of gestation (term = 148 days). Their physiological parameters, such as fetal heart rate, mean blood pressure, flow rate of carotid artery, as well as the auditory brainstem response and middle latency response, were recorded prior to and during hypoxia, and the two sets of data were compared with each other.

Results: In all five cases, the fetal heart rate decreased from 178 +/- 12.2 b.p.m. to 144 +/- 15.2 b.p.m. during hypoxia, while mean blood pressure and flow rate of carotid artery increased from 37.3 +/- 3.7 mmHg to 43.2 +/- 5.1 mmHg, and from 38.5 +/- 5.5mL/min to 47.0 +/- 5.1 mL/min, respectively. The latency of the auditory brainstem response's wave V and of the middle latency response's Pa wave elongated from 5.24 +/- 0.24 ms to 5.69 +/- 0.20 ms, and from 19.2 +/- 1.6 ms to 20.9 +/- 1.4 ms, respectively.

Conclusions: Although fetal compensatory reactions, such as increases in mean blood pressure and flow rate of carotid artery during hypoxia were recognized, elongation of latency, and decrement of amplitude were observed in the auditory brainstem response and middle latency response. These results suggest that hypoxia itself influences the auditory system of the fetus.
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http://dx.doi.org/10.1046/j.1341-8076.2002.00080.xDOI Listing
April 2003