Keiko Wakui

Loss of function in NSD2 causes DNA methylation signature similar to that in Wolf-Hirschhorn syndrome

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Ohnishi et autres

Purpose Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by heterozygous deletions of the distal short arm of chromosome 4 that includes NSD2 , reportedly causes specific DNA methylation signatures in peripheral blood cells. However, the genomic loci responsible for these signatures …

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DNA methylation signature in NSD2 loss-of-function variants appeared similar to that in Wolf-Hirschhorn syndrome

Tomoko Kawai, Shiori Kinoshita, Yuka Takayama, Eriko Onishi et autres

Abstract Purpose Wolf-Hirschhorn syndrome (WHS), a contiguous gene syndrome caused by the hemizygous deletion of the distal short arm of chromosome 4 where NSD2 is, reportedly exhibits specific DNA methylation signatures in peripheral blood cells. However, responsible genomic loci for signatures are …

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Reanalysis of Chromosomal Microarray Data Using a Smaller Copy Number Variant Call Threshold Identifies Four Cases with Heterozygous Multiexon Deletions of ARID1B, EHMT1, and FOXP1 Genes

Noriko Kubota, Ryojun Takeda, Jun Kobayashi, Eiko Hidaka et autres

Introduction: Chromosomal microarray (CMA) is a highly accurate and established method for detecting copy number variations (CNVs) in clinical genetic testing. CNVs are important etiological factors for disorders such as intellectual disability, developmental delay, and multiple congenital anomalies. Recently developed analytical methods …

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Supplementary Material for: Reanalysis of chromosomal microarray data using a smaller copy number variant call threshold identifies four cases with heterozygous multiexon deletions of ARID1B, EHMT1, and FOXP1 genes

Noriko Kubota, Ryojun Takeda, Jun Kobayashi, Eiko Hidaka et autres

Introduction Chromosomal microarray (CMA) is a highly accurate and established method for detecting copy number variations (CNVs) in clinical genetic testing. CNVs are important etiological factors for disorders such as intellectual disability, developmental delay, and multiple congenital anomalies. Recently developed analytical methods …

Comprehensive genetic screening for vascular Ehlers–Danlos syndrome through an amplification‐based next‐generation sequencing system

Tomomi Yamaguchi, Shujiro Hayashi, Daisuke Hayashi, Takeshi Matsuyama et autres

Vascular Ehlers-Danlos syndrome (vEDS) is a hereditary connective tissue disorder (HCTD) characterized by arterial dissection/aneurysm/rupture, sigmoid colon rupture, or uterine rupture. Diagnosis is confirmed by detecting heterozygous variants in COL3A1. This is the largest Asian case series and the first to apply …

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Neuropsychological and neurophysiological features of WAGR syndrome: Detailed comprehensive evaluation of a patient with severe intellectual disability and autism spectrum disorder

Hitomi Nishizawa, Mitsuo Motobayashi, Miwa Akahane, Keiko Wakui et autres

BACKGROUND: Wilms' tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome caused by a de novo deletion including the 11p13 region. Although autism spectrum disorder (ASD) is frequently observed in patients with WAGR syndrome, few reports …

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A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2

Kaori Hara‐Isono, Keiko Matsubara, Riku Hamada, Shun Shimada et autres

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Heterozygous missense variant in TRPC6 in a boy with rapidly progressive infantile nephrotic syndrome associated with diffuse mesangial sclerosis

Hiroaki Hanafusa, Yoshihiko Hidaka, Tomomi Yamaguchi, Hisashi Shimojo et autres

Transient receptor potential channel C6 encoded by TRPC6 is involved in slit diaphragm formation in podocytes, and abnormalities of the TRPC6 protein cause various glomerular diseases. The first identified pathogenic variant of TRPC6 was found to cause steroid-resistant nephrotic syndrome that typically …

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Mid-Frequency Hearing Loss Is Characteristic Clinical Feature of OTOA-Associated Hearing Loss

Kenjiro Sugiyama, Hideaki Moteki, Shin‐ichiro Kitajiri, Tomohiro Kitano et autres

The OTOA gene (Locus: DFNB22) is reported to be one of the causative genes for non-syndromic autosomal recessive hearing loss. The copy number variations (CNVs) identified in this gene are also known to cause hearing loss, but have not been identified in …

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Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

Yoichiro Oda, Yuri Uchiyama, Ai Motomura, Atsushi Fujita et autres

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PIEZO2 deficiency is a recognizable arthrogryposis syndrome: A new case and literature review

Tomomi Yamaguchi, Kyoko Takano, Yuji Inaba, Manami Morikawa et autres

PIEZO2 encodes a mechanically activated cation channel, which is abundantly expressed in dorsal root ganglion neuron and sensory endings of proprioceptors required for light touch sensation and proprioception in mice. Biallelic loss-of-function mutations in PIEZO2 (i.e., PIEZO2 deficiency) were recently found to …

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Frequency and clinical features of hearing loss caused by STRC deletions

Yoh Yokota, Hideaki Moteki, Shin‐ya Nishio, Tomomi Yamaguchi et autres

Abstract Sensorineural hearing loss is a common deficit and mainly occurs due to genetic factors. Recently, copy number variants (CNVs) in the STRC gene have also been recognized as a major cause of genetic hearing loss. We investigated the frequency of STRC …

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