Naoya Saijo

Genetic Testing Unveils a Novel Thrombospondin‐1 Domain Containing Protein 1 Gene Variant as the Cause of Chronic Edema in a 79‐Year‐Old Woman

Eiko Amo, Takafumi Toyohara, Naoya Saijo, Satoko Sato et autres

Edema requires management tailored to its underlying etiology; however, in some cases the cause remains elusive. We describe a 79-year-old woman with lifelong unexplained peripheral edema. Comprehensive evaluation excluded common etiologies such as heart failure, renal dysfunction, and venous thrombosis. Whole-genome sequencing …

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Inherited Glycosylphosphatidylinositol Deficiency Caused by PIGW Variants With Recurrent Infections and Complement Abnormalities

Yuka Okawa, Toshiki Tsunogai, Naoya Saijo, Eri Imagawa et autres

Glycosylphosphatidylinositol (GPI) serves as an anchor protein for human cells, and genetic defects in this protein can lead to inherited GPI deficiency (IGD). Intellectual disability, distinctive facial features, epilepsy, hyperphosphatasia, and multiple organ anomalies characterize IGD, with severity varying based on the …

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A Case of ROSAH Syndrome Diagnosed Following Unexplained Splenomegaly and Thrombocytopenia in Early Childhood

Masaru Imamura, Akiko Sasaki, Hiromi Nyuzuki, Kumiko Yanagi et autres

Introduction ROSAH (Retinal dystrophy, Optic nerve edema, Splenomegaly, Anhidrosis, Headache) syndrome is caused by a gain-of-function mutation in the ALPK1 gene and is classified as a systemic autoinflammatory disease due to constitutive activation of the NF-κB pathway. Ocular symptoms are the most …

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Relative Efficacy of Self-Managed Caffeine Supplementation in Maintaining Daily Activity in a Patient with ADCY5-Related Dyskinesia: A Case Report

Kaori Kodama, Haruhiko Nakamura, Aritomo Kawashima, Yukimune Okubo et autres

Introduction: ADCY5-related dyskinesia is an autosomal dominant movement disorder with limited treatment options because many standard medications are ineffective. Caffeine has shown efficacy in ADCY5-related dyskinesia as an adenosine A2A receptor antagonist, but optimal dosing remains uncertain. Case Presentation: We report a …

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From N-of-1 to versatility in propionic acidemia: Antisense oligonucleotide-mediated skipping of a constitutive PCCA pseudoexon

Eriko Totsune, Yoichi Wada Yoichi Wada, Yasuko Mikami-Saito, Natsuko Arai‐Ichinoi et autres

. ASO treatment successfully restored enzymatic activity, particularly in fibroblast lines, with residual activity exceeding 1% of normal. These findings suggest that ASO-mediated splicing correction targeting the 84-bp pseudoexon can restore mRNA, protein, and enzymatic function in individuals with deep intronic mutations, …

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Bleeding Diathesis in Hypotrichosis–Lymphedema–Telangiectasia Syndrome due to Decreased von Willebrand Factor

Miyako Kanno, Hiroko Sato, Yuta Uemura, Toru Meguro et autres

Hypotrichosis-lymphedema-telangiectasia syndrome (HLTS) is a congenital disorder characterized by lymphedema, telangiectasia, and hypotrichosis or alopecia, caused by mutations in the SRY-related high-mobility group box (SOX) 18 gene. We report the case of a 10-year-old boy who presented with aortic valve regurgitation, marbled …

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De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings

Maiko Ikeda, Chikahiko Numakura, Gen Nishimura, Naoya Saijo et autres

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Co‐Occurrence of SCN9A and PRRT2 Variants in a Patient With Paroxysmal Extreme Pain Disorder, Contradictory Analgesia, and Intractable Paroxysmal Non‐Kinesigenic Dyskinesia

Miki Ikeda, Aritomo Kawashima, Kaori Kodama, Ryo Sato et autres

Gain‐of‐function mutations in SCN9A , encoding the voltage‐dependent Nav1.7 sodium channel, cause three autosomal‐dominant disorders associated with severe pain: primary erythromelalgia, paroxysmal extreme pain disorder (PEPD), and small fiber neuropathy. On the other hand, biallelic loss‐of‐function mutations have been linked to impaired …

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Temporal lobe-predominant cortical dysplasia with mild cortical thickening in FOXG1 syndrome

Kei Yamada, Yu Kobayashi, Masaki Miura, Moemi Hojo et autres

Forkhead box G1 ( FOXG1 ) gene syndrome is a neurodevelopmental disorder characterized by severe developmental delays, microcephaly, autistic features, epilepsy, and complex hyperkinetic-dyskinetic movement disorders. We present the case of a Japanese patient with microcephaly, cortical dysplasia with irregular gyri and …

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Identification of CNKSR2 Pathogenic Variant and Detection of Strong XCI in a Female Patient With Severe DEE ‐ SWAS and Phenotype Expansion in Male Patients

Yu Katata, Yukimune Okubo, Haruhiko Nakamura, Naoya Saijo et autres

Connector enhancer of kinase suppressor of Ras2 (CNKSR2) is critical in neuronal dendrite growth. Hemizygous pathogenic variants of CNKSR2, which is located at Xp22.12, are associated with intellectual disability, epilepsy, and developmental and epileptic encephalopathy with spike wave activation during sleep. As …

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A Japanese Case of Lenz‐Majewski Syndrome With a Novel PTDSS1 Variant

Yasuko Kobari, Non Miyata, Jun Takayama, Naoya Saijo et autres

BACKGROUND: Lenz-Majewski syndrome (LMS) is a rare genetic disorder characterized by osteosclerosis, intellectual disability, characteristic facies, and distinct craniofacial, dental, cutaneous, and distal-limb anomalies. Mutations in the PTDSS1 gene, which encodes one of the phosphatidylserines (PS) synthase enzymes, PSS1, have been identified …

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A case of Wiedemann–Steiner syndrome caused by a novel KMT2A c.8862del variant

Hikaru Nishida, Eri Imagawa, Toshiki Tsunogai, Naoya Saijo et autres

The authors declare no conflict of interest. Appendix S1. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author …

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