Neurogenetics最新文献

Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review. 歌舞伎综合征的多中心经验：包括三种新的KMT2D变体在内的8例患者的病例系列和简要回顾。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-05-09 DOI: 10.1007/s10048-026-00906-2

Firat Ozcelik, Nilgun Duman, Aslihan Kiraz, Ozlem Oz, Mikail Demir, Alper Dogan, Selcan Ozturk, Dilek Cicek, Gul Direk Trabzon, Yusuf Ozkul, Huseyin Per, Munis Dundar

{"title":"Multicenter experience of Kabuki syndrome: a case series of eight patients including three novel KMT2D variants and a brief review.","authors":"Firat Ozcelik, Nilgun Duman, Aslihan Kiraz, Ozlem Oz, Mikail Demir, Alper Dogan, Selcan Ozturk, Dilek Cicek, Gul Direk Trabzon, Yusuf Ozkul, Huseyin Per, Munis Dundar","doi":"10.1007/s10048-026-00906-2","DOIUrl":"https://doi.org/10.1007/s10048-026-00906-2","url":null,"abstract":"Kabuki syndrome is a rare disorder characterized by growth retardation, distinctive craniofacial features, intellectual disability, and congenital anomalies that can affect various systems. Disease-causing variants in KMT2D and KDM6A, two genes that regulate transcription via histone modifications, are responsible for most of the cases. We retrospectively reviewed the medical records and molecular studies of eight patients suspected of Kabuki syndrome in four centers in Turkey between 2016 and 2021. We detected eight patients with a definitive diagnosis of Kabuki syndrome. All patients had intellectual disability/developmental delay and some of the distinctive dysmorphic features. Most of the clinical presentations occurred at a frequency similar to the current literature. Seven patients had pathogenic variants in the KMT2D gene, while three variants were previously unreported. One was diagnosed with his characteristic clinical findings. A patient with a novel KMT2D variant had recurrent bone fractures. Kabuki syndrome affects various systems, necessitating a multidisciplinary approach to diagnosis and follow-up. Clinical findings, as well as molecular studies, are valuable in diagnosis. In this study, we clarify the signs and symptoms of the patients and contribute to the molecular spectrum of Kabuki syndrome.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome. 一个新的复合杂合的AAAS基因在两个希腊兄弟姐妹：扩大奥尔格罗夫综合征的基因型景观。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-05-07 DOI: 10.1007/s10048-026-00904-4

Vasileios Siokas, Maria Sokratous, Antonia Tsika, Ioannis Liampas, Georgia Pepe, Chrysoula Marogianni, Elena Papageorgiou, Georgios Nasioulas, Polyxeni Stamati, Stylliani Ralli, Efthimios Dardiotis

{"title":"A novel compound heterozygosity in AAAS gene in two Greek siblings: expanding the genotypic landscape of Allgrove syndrome.","authors":"Vasileios Siokas, Maria Sokratous, Antonia Tsika, Ioannis Liampas, Georgia Pepe, Chrysoula Marogianni, Elena Papageorgiou, Georgios Nasioulas, Polyxeni Stamati, Stylliani Ralli, Efthimios Dardiotis","doi":"10.1007/s10048-026-00904-4","DOIUrl":"https://doi.org/10.1007/s10048-026-00904-4","url":null,"abstract":"Allgrove syndrome, also known as Triple-A syndrome, is a rare autosomal recessive disorder characterized by the triad of alacrima, achalasia, and adrenal insufficiency, alongside a broad spectrum of neurological and autonomic dysfunctions. We present a compound heterozygosity for the pathogenic NM_015665.6:c.787T > C, p.(Ser263Pro) and the not previously described in the literature NM_015665.6:c.1442 A > G, p.(His481Arg), as a possible cause for Allgrove syndrome. Exome sequencing was performed in a female patient with achalasia, alacrima, optic atrophy, asymmetrical axonal sensorimotor polyneuropathy, segmental demyelination, and chronic denervation, revealing the above-mentioned compound heterozygosity. Segregation analysis was performed in three siblings of the proband and in the mother. The affected brother of the proband (presenting with achalasia, alacrimia, motor neuropathy, autonomic dysfunction, optic atrophy and osteoporosis), was found to be compound heterozygotes for the same variants. Although the paternal genotype was not available, the absence of the p.(His481Arg) variant in the mother indicates paternal inheritance of this variant, providing indirect evidence that the two AAAS variants are located on different alleles (in trans). The proband and her affected sibling were found to carry compound heterozygosity for the known pathogenic AAAS variant p.(Ser263Pro) and the novel p.(His481Arg) variant. Segregation analysis in available family members supports a contributory role of p.(His481Arg) in the context of autosomal recessive inheritance, however, phase could not be directly confirmed due to the unavailability of the paternal sample. Functional validation and/or identification of the variant in unrelated affected individuals would be required to further clarify its pathogenic significance. We also provide a comprehensive review of reported Allgrove syndrome cases in the literature carrying compound heterozygosity for the NM_015665.6:c.787T > C, p.(Ser263Pro) variant and the respective wide spectrum of this syndrome.","PeriodicalId":56106,"journal":{"name":"Neurogenetics","volume":"27 1","pages":""},"PeriodicalIF":1.2,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147846593","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Internal carotid and vertebrobasilar artery dolichoectasia in patients with cerebral small vessel disease and COL4A1/COL4A2 duplication. COL4A1/COL4A2重复脑小血管疾病患者的颈内动脉和椎基底动脉过度扩张

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-05-01 DOI: 10.1007/s10048-026-00905-3

Ryotaro Yui, Teruya Morizumi, Nobuhiko Ohashi, Katsuya Nakamura, Shinji Masuko, Fumihito Ichinohe, Yoshiki Sekijima

引用次数: 0

Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis? 散发性前庭神经鞘瘤肿瘤内变异频率的差异作为花叶性nf2相关神经鞘瘤病的潜在指示？

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-27 DOI: 10.1007/s10048-026-00903-5

Lan Kluwe, Tabea Hartung, Steffen Rosahl, Said Farschtschi

引用次数: 0

Astaxanthin protects human astrocytes (HA) against 6-hydroxydopamine-induced oxidative toxicity. 虾青素保护人类星形胶质细胞（HA）免受6-羟多巴胺诱导的氧化毒性。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-22 DOI: 10.1007/s10048-026-00901-7

Sarah Hussein Ali Alallo, Zahraa A Althabet, Heba Akram Mohsin

引用次数: 0

Adult-onset PLEC-related congenital myasthenic syndrome-myopathy overlap with upper limb predominant weakness. 成人发病的plec相关先天性肌无力综合征-肌病与上肢主要无力重叠。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-18 DOI: 10.1007/s10048-026-00900-8

Angel Jose, Aina Jasrul Azily, Katie Doyle, Karen Stals, Hayley Lees, Caoimhe McKenna, Amy Jayne McKnight, John McConville, Grace McMacken

引用次数: 0

Cerebrotendinous xanthomatosis in Slovak patients - experience with clinical manifestations and diagnostic approaches. 斯洛伐克患者的脑腱黄瘤病-临床表现和诊断方法的经验。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-18 DOI: 10.1007/s10048-026-00902-6

Pavol Ďurina, Andrej Bandura, Ján Chandoga, Miriama Juhosová, Marcel Repiský, Petra Jungová, Jana Roháľová, Dominika Jarásková, Viktória Pohorelská, Silvia Dallemule, Slavomíra Mattošová, Katarína Brennerová, Katarína Okaľová, Imre Bohuniczky, Daniel Böhmer

引用次数: 0

Homozygous NOTCH3 c.3373G > A (p.(Glu1125Lys)) in a consanguineous Chinese family presenting with vestibular migraine and epilepsy: Expanding the genotype-phenotype spectrum. 纯合子NOTCH3 c.3373G > A (p.(Glu1125Lys)))在一个具有前庭偏头痛和癫痫的近亲中国家庭中：扩大基因型-表型谱。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-09 DOI: 10.1007/s10048-026-00899-y

Yong Luo, Jian Chen, Qian Li, Yun Zhang

引用次数: 0

Neuroepigenetic regulation by long non-coding RNAs in sepsis-associated encephalopathy: cell-type programs and translational biomarkers. 长链非编码rna在败血症相关脑病中的神经表观遗传调控：细胞类型程序和翻译生物标志物。

IF 1.2 4区医学

Neurogenetics Pub Date : 2026-04-06 DOI: 10.1007/s10048-026-00889-0

Yun Wang, Xuexin Li, Bowen Sun, Fei He, Li Liu

引用次数: 0

Inhibition of phosphatase and tensin homolog induces chemical long-term potentiation in the dentate gyrus of hippocampus. 抑制磷酸酶和紧张素同源物可诱导海马齿状回化学长时程增强。