Tetsuya Niihori

Attenuated Li–Fraumeni syndrome with TP53 p.R181H in a Japanese patient with metastatic rectal adenocarcinoma: a case report

Yuki Kasahara, Masanobu Takahashi, Yoshifumi Kawamura, Yoko Aoki et autres

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Phenotypic Analysis of Embryos in a Noonan Syndrome Model Mouse With the Rit1 A57G Mutation

Dai Suzuki, Taiki Abe, Tetsuya Niihori, Atsuo Kikuchi et autres

ABSTRACT Background Noonan syndrome is a congenital genetic disorder characterized by distinctive craniofacial features, short stature, and congenital heart disease. Dysregulation of the RAS/mitogen‐activated protein kinase (MAPK) pathway is a common molecular mechanism underlying the pathogenesis of these disorders. Germline mutations in …

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TRPV6-related pancreatitis: natural history and the impact of the pancreas-specific deletion on pancreatitis in mice

Atsushi Masamune, Emmanuelle Masson, Wen‐Bin Zou, Agnieszka Magdalena Rygiel et autres

BACKGROUND: The transient receptor potential cation channel subfamily V member 6 (TRPV6) gene, encoding a calcium-selective ion channel, was recently identified as a susceptibility gene for pancreatitis. This study aimed to clarify the natural history of TRPV6-related pancreatitis and the impact of …

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KLHL9-linked distal myopathy: a second family suggesting broad phenotypic variability

Rumiko Izumi, Isao Fukasaka, Tsuyoshi Matsumura, Naoko Nakamura et autres

Distal myopathies comprise a clinically and genetically diverse group of muscle disorders characterized by initial involvement of the distal extremities. We describe siblings who developed progressive weakness in the ankle plantar flexors from adolescence to early adulthood. By their 50s, the lower …

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Missense and truncated variants in ERF in individuals with a Noonan-like phenotype without craniosynostosis

Yusuke Goto, Tetsuya Niihori, Seiji Mizuno, Nobuhiko Okamoto et autres

ETS2 repressor factor (ERF) is a member of the ETS family of transcriptional repressors downstream of ERK. Although germline truncated variants in ERF have been identified in individuals with Noonan-like syndrome with or without craniosynostosis, the clinical spectrum of ERF variant-positive individuals …

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Regional Differences in the Frequency of BRCA1 and BRCA2 Variants in Northeastern Japan: A Cohort Study

Hidekazu Shirota, Akimitsu Miyake, Maako Kawamura, Shuhei Suzuki et autres

BACKGROUND: Germline mutations in BRCA1/2 are known to cause hereditary tumors in the breast, ovary, and other organs. With the widespread adoption of comprehensive diagnostics, including comprehensive genomic profiling (CGP) tests for solid tumors, many patients with BRCA1/2 variants have been identified. …

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Updated Genetic Analysis of Japanese Familial ALS Patients Carrying SOD1 Variants Revealed Phenotypic Differences for Common Variants

Ayumi Nishiyama, Tetsuya Niihori, Naoki Suzuki, Rumiko Izumi et autres

Background and Objectives: -linked ALS are being used in practical applications, the types of variants and the clinical features of patients need to be updated. Methods: -linked ALS as the most common in our cohort, updated their genotypes, and characterized clinical phenotypes. …

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Dysregulation of RAS proteostasis by autosomal-dominant LZTR1 mutation induces Noonan syndrome–like phenotypes in mice

Taiki Abe, K Morisaki, Tetsuya Niihori, Miho Terao et autres

Leucine-zipper-like posttranslational regulator 1 (LZTR1) is a member of the BTB-Kelch superfamily, which regulates the RAS proteostasis. Autosomal dominant (AD) mutations in LZTR1 have been identified in patients with Noonan syndrome (NS), a congenital anomaly syndrome. However, it remains unclear whether LZTR1 …

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Lymphatic endothelial cell-specific NRAS p.Q61R mutant embryos show abnormal lymphatic vessel morphogenesis

Akifumi Nozawa, Taiki Abe, Tetsuya Niihori, Michio Ozeki et autres

Generalized lymphatic anomaly (GLA) and kaposiform lymphangiomatosis (KLA) are rare congenital disorders that arise through anomalous embryogenesis of the lymphatic system. A somatic activating NRAS p.Q61R variant has been recently detected in GLA and KLA tissues, suggesting that the NRAS p.Q61R variant …

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Comprehensive Analysis of a Japanese Pedigree with Biallelic ACAGG Expansions in RFC1 Manifesting Motor Neuronopathy with Painful Muscle Cramps

Rumiko Izumi, Hitoshi Warita, Tetsuya Niihori, Yoshihiko Furusawa et autres

Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is an autosomal recessive multisystem neurologic disorder caused by biallelic intronic repeats in RFC1. Although the phenotype of CANVAS has been expanding via diagnostic case accumulation, there are scant pedigree analyses to reveal disease …

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FGFR1 related Encephalocraniocutaneous lipomatosis in a neonate with congenital hydrocephalus

Masashi Zuiki, Tomohiro Chiyonobu, Hidechika Morimoto, Hiroko Sawada et autres

Encephalocraniocutaneous lipomatosis (ECCL), a type of mosaic RASopathy, is a rare neurocutaneous syndrome characterized by the involvement of tissues with ectodermal and mesodermal origins, including cutaneous, ocular, and neurological abnormalities. This report presents a case of a neonate with ECCL showing rapid …

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Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome

Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada et autres

Noonan syndrome (NS) is caused by pathogenic variants in genes encoding components of the RAS/MAPK pathway and presents with a number of symptoms, including characteristic facial features, congenital heart diseases, and short stature. Advances in genetic analyses have contributed to the identification …

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