Journal of Genetics最新文献

{"title":"Correction to: Assessment of the contribution of <i>VDR</i> and <i>VDBP/GC</i> genes in the pathogenesis of celiac disease.","authors":"Pratibha Banerjee, Harinder Singh, Priyanka Tiwari, Ajit Sood, Vandana Midha, Gursewak Singh, B K Thelma, Sabyasachi Senapati","doi":"","DOIUrl":"","url":null,"abstract":"","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093892","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Mapping and gene cloning of a wheat mutant <i>dsc</i> with dwarf and compacted spikes.","authors":"Ying Xue, Junchang Li, Yumei Jiang, Yongjing Ni, Zhiheng Liang, Peipei Zhang, Ting Wang, Ziping Yao, Jiaqi Wang, Qiaoyun Li, Jishan Niu","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Plant height and spikelet density are two important traits for wheat (<i>Triticum aestivum</i> L.) yield. The development of wheat mutants not only provides new genetic resources for wheat improvement but also facilitates our understanding of the molecular regulation of these traits. Previously, we obtained a mutant named dwarf and spike compactness (<i>dsc</i>) from wheat cultivar Guomai301 (wild type, WT) treated with ethyl methane sulphonate. This study investigates the heredity, mutated gene location, and the candidate gene of <i>dsc</i>. Highresolution chromosome painting analysis indicated that there were no visible structural variations in the mutant <i>dsc</i>. Genetic analysis indicated that the phenotype of dsc was controlled by a single dominant gene, named as <i>dsc</i>. The wheat 660 K single-nucleotide polymorphism (SNP) array and simple sequence repeat (SSR) marker assay were employed to map the mutated gene. A total of 984 SNPs were identified between the DNA bulks, among which, 492 SNPs were located on chromosome 5A in 580-680 Mb genomic region, which occupied 50% of the total SNPs. The gene <i>dsc</i> was mapped in a 33.4 Mb (625.7-659.1 Mb) region on chromosome arm 5AL, flanked by SSR markers <i>Xbarc319</i> and <i>Xgpw2136</i>, where <i>5AQ</i> is located. Sequences and expression patterns of <i>5AQ</i> from WTand dsc were compared. The two <i>5AQ</i>s had a SNP (G>A) in the <i>miR172</i> binding site. A dCAPS marker was developed based on the SNP, and the marker was cosegregated with the mutated phenotypes in a F_2:3 population derived from the cross <i>dsc</i> x Chinese Spring (CS). This result demonstrated that the gene <i>5AQ</i> was the mutated gene of <i>dsc</i>. The expression levels of <i>5AQ</i> were significantly higher in roots, stems, leaves and spikes of mutant <i>dsc</i> than those in WT. Our results demonstrated that point mutation in the <i>miR172</i> binding site of the <i>5AQ</i> likely increased its transcript level via a reduction in miRNA-dependent degradation, and this resulted in pleiotropic effects on spikelet density and plant height. Obviously, <i>miR172</i>-<i>Q</i> was a key regulation module for wheat growth and spike development. The dCAPS marker could be used to detect the elite allele of <i>Q</i> in wheat breeding. Regulation of <i>miR172</i>-<i>Q</i> module might be an approach for wheat yield breeding.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093896","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurospora <i>fmf-1</i>: lure and lore.","authors":"Durgadas P Kasbekar","doi":"","DOIUrl":"","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The &lt;i&gt;Neurospora crassa fmf-1&lt;/i&gt; mutant has a unique phenotype. It arrests sexual development when the fruiting bodies (perithecia) attain only 40% of their normal diameter, regardless of whether the mutant participates in a cross with the wild type (&lt;i&gt;fmf-1&lt;/i&gt; x &lt;i&gt;fmf-1&lt;/i&gt;&lt;sup&gt;+&lt;/sup&gt;) as the male or female parent. I first learnt about &lt;i&gt;fmf-1&lt;/i&gt; when this journal invited me to review '&lt;i&gt;The Neurospora compendium: chromosomal loci&lt;/i&gt;' by D. D. Perkins, A. Radford and M. S. Sachs (&lt;i&gt;J. Genet.&lt;/i&gt; 80: 53-54, 2001). The compendium also informed me that the first Neurospora genetic map was published here (&lt;i&gt;J. Genet.&lt;/i&gt; 32, 243-256, 1936). The mutant was discovered and characterized by T. E. Johnson, who also localized the mutation to a chromosome 1 segment that spanned more than 3.3 Mb DNA (&lt;i&gt;Genetics&lt;/i&gt; 92, 1107-1120, 1979). The second &lt;i&gt;fmf-1&lt;/i&gt; paper came 30 years later from my laboratory. We mapped the mutation to a single base pair, a T:A to A:T transversion mutation, and thus identified the altered gene (&lt;i&gt;J. Genet.&lt;/i&gt; 88: 33-39, 2009). To map &lt;i&gt;fmf-1&lt;/i&gt;, we leveraged our expertise in making strains bearing chromosome segment duplications. The &lt;i&gt;Dp&lt;/i&gt; strains were generated in crosses of the wild type with translocation strains (&lt;i&gt;WT&lt;/i&gt; x &lt;i&gt;T&lt;/i&gt;). A translocation transfers a segment of one chromosome into another. Mapping with &lt;i&gt;Dp&lt;/i&gt;s localized &lt;i&gt;fmf-1&lt;/i&gt; to a 330 kbp segment. Conventional mapping with crossovers and selection against noncrossovers subsequently localized it to a 33 kbp segment. This interval was small enough to pick up the mutation by sequencing its DNA. The Fmf-1 protein activates genes required for mating pheromone signalling. The &lt;i&gt;fmf-1&lt;/i&gt; male gametes (conidia) fail to secrete the pheromone that attracts receptors on the &lt;i&gt;fmf-1&lt;/i&gt;&lt;sup&gt;+&lt;/sup&gt; female sexual structures (protoperithecia). Conversely, &lt;i&gt;fmf-1&lt;/i&gt; protoperithecia do not express the cognate receptor for the pheromone from the &lt;i&gt;fmf-1&lt;/i&gt;&lt;sup&gt;+&lt;/sup&gt; conidia. Consequently, the &lt;i&gt;fmf-1&lt;/i&gt;&lt;sup&gt;+&lt;/sup&gt; x &lt;i&gt;fmf-1&lt;/i&gt; cross fails to fertilize protoperithecia and arrests their maturation into perithecia. Genetic mapping, especially &lt;i&gt;Dp&lt;/i&gt; mapping, fails to impress many nongeneticists these days. How do &lt;i&gt;WT&lt;/i&gt; x &lt;i&gt;T&lt;/i&gt; crosses produce &lt;i&gt;Dp&lt;/i&gt; progeny? Why are &lt;i&gt;Dp&lt;/i&gt;s and crossovers even needed? Why select against noncrossovers? Why not just sequence the genomes of the wild type and mutant, identify genes whose DNA is altered in the mutant, and then test them one by one? Many forget that DNA sequencing, especially of 'hard to access' centromeric sequences, was not as easy and inexpensive then. Isolating &lt;i&gt;fmf-1&lt;/i&gt; offered us the possibility of enriching for RIP-defective mutants. RIP is a mutational process that occurs during a sexual cross and induces multiple G:C to A:T transition mutations in all copies of any DNA sequences duplicated in the otherwise haploid Neurospora genome. It is the most mutagenic p","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal effect on the inheritance of pericarp colour and grain dimension in rice (<i>Oryza sativa</i> L.).","authors":"Sakthi Anand Muthazhagu Kuppuraj, Yoglakshmi Chokkalingam, Karthick Jothiganapathy, Vengadessan Vedachalam, Deepak Singh Bisht, Sarvamangala Cholin, Thirumeni Saminadane","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>This study aimed to understand the maternal influence on the inheritance of pericarp colour and grain dimensions in rice, serving as a model for maternal effects in plants. Four crosses, namely Kalarata (red pericarp) x DRR Dhan 58 (white pericarp), DRR Dhan 58 x Kalarata, Kalarata x Pusa 44 (white pericarp), and Pusa 44 x Kalarata, were attempted and their F₁, F₂ and F₃ seeds were analysed. All F₁ seeds of all crosses exhibited the pericarp colour of their corresponding maternal parent, confirming a strong maternal influence. In subsequent generations, F₂ seeds uniformly exhibited red pericarp colour across all crosses, thus reinforcing the influence of maternal genotype on inheritance. However, F₃ seeds were segregated into 9 red: 3 medium red: 4 white, suggesting digenic recessive epistasis (supplementary gene action). Phenotypic assessments indicated nuclear inheritance with maternal effects, while genotypic analysis using gene-based markers revealed polymorphisms at 'Rc' locus and monomorphism at 'Rd' locus, indicating the presence of specific genetic factors in the parental materials used in the study. Additionally, analysis of the grain L/B ratio revealed a similar trend to pericarp colour inheritance, with direct maternal genetic effects in F₁ seeds, consistent uniformity in F₂ seeds and continuous variation in F₃ seeds across all crosses. Welch's test comparisons of L/B ratios suggested a significant maternal impact, particularly in F₃ and F₂ generations, with paternal influence remaining consistent across generations. Deviations in the L/B ratios in certain F₃ segregants suggest environmental influences on grain development. These findings contribute to the understanding of maternal effects in plants and have important implications for rice breeding. The significance of this research lies in its contribution to the relatively unexplored field of maternal effects in plant genetics.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440836","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The <i>sev-Gal4</i> driver in <i>Drosophila melanogaster</i> does not express in the eight pairs of dorsomedial and some other neurons in larval ventral ganglia: a correction.","authors":"Vanshika Kaushik, Subhash C Lakhotia","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The <i>sev-Gal4</i> driver is widely used in <i>Drosophila</i> to express the target gene in specific subsets of cells in ommatidial units of the developing eye. A 2015 report (Ray and Lakhotia, <i>J. Genet.</i> 94, 407-416) from our laboratory claimed that besides the eye disc cells, the <i>sev-Gal4</i> (Bloomington stock 5793) also expresses in eight pairs of dorsomedial neurons and some other cells in larval and early pupal ventral ganglia. The current study reveals that this claim was incorrect since the <i>UAS-GFP</i> transgene in Bloomington stock 1521 used as a reporter in the 2015 study expresses in the eight pairs of dorsomedial neurons and some other cells in larval and early pupal ventral ganglia even in undriven condition. The <i>UAS-eGFP</i> reporter in the BL-5431 stock, however, does not express in these ganglia, neither in undriven nor in <i>sev-Gal4</i> driven condition. This was also confirmed by the G-TRACE cell lineage study. Present results suggest that only four dorsalmidline cells in the ventral ganglia and a cluster of cells in the central region of the brain hemisphere, besides the earlier known cells in the eye disc and optic lobe of the brain, express the sev-Gal4 transgene in the stock 5793. The essentiality of examining the undriven expression of a transgene cannot be over-emphasized.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440869","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"YY1 as a mediator to enhance the resistance of KRAS mutant colorectal cancer cells to cetuximab.","authors":"Yi Ma, Yi Lin, Congying Wang, Yujie Lv, Wei Chen","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Cetuximab has been indicated as the mainstay of metastatic colorectal cancer (CRC) therapy, of which application was impeded by chemoresistance that was casually attributed to KRAS mutation. This study sought to determine whether YY1 mediated the resistance of CRC cells harbouring KRAS mutation (KRASmut) to cetuximab. The expression of YY1 between cetuximab response and resistance was investigated in cancerous tissues from CRC patients received cetuximab therapy comprising eight KRAS wild-type (KRASwt) and 12 KRASmut. The relationship between YY1 expression and cetuximab resistance was explored based on KRASmut and KRASwt CRC cell lines. To explore the role of YY1 in the cetuximab resistance of KRASmut CRC cells, the response to cetuximab was investigated in cetuximab-resistant cells (SW620-R) with YY1 silence and cetuximab sensitive cells (HCT116) with YY1 overexpression. EGFR/Akt/ERK signalling activation, as well as mRNA and active GTP-bound KRAS level were assessed after the treatment. In KRASmut CRC tissues, YY1 expression was correlated with the histological grade and the cetuximab resistance. Significantly markable differences in YY1 expression between cetuximab-resistant and the parental cell lines were found in KRASmut cells. Silencing YY1 resensitized SW620-R cells to cetuximab and led to an elevation of the active GTP-binding KRAS. Conversely, the capability against cetuximab and GTP-binding KRAS activation of HCT116 cells was enhanced by overexpressing YY1. The blockage of EGFR/Akt/ERK signalling by cetuximab was re-observed in SW620-R cells after silencing YY1 but impaired in HCT116 by overexpressing YY1. The YY1 mediates the resistance of KRASmut CRC cells to cetuximab.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143440962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Characterization and expression patterns of the <i>NPR1</i>-like genes in maize.","authors":"Wenlan Li, Xinwei Hou, Zhaodong Meng, Runqing Yue","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The nonexpressor of pathogenesis-related 1 (<i>NPR1</i>) is the salicylic acid (SA) receptor, which plays an important regulatory role in plant immunity. However, the <i>NPR1</i>-like gene family in maize has not been comprehensively identified and analysed. In the present study, we identified gene structures, conserved motifs, <i>cis</i>-elements, and expression patterns in different tissues and organs, and under biotic and abiotic stresses. The <i>NPR1</i>-like proteins of different species are highly conserved during evolution. Many <i>cis</i>-acting elements have been identified in the promoter region of NPR1-like genes in maize, including elements that respond to growth and development, biotic and abiotic stresses, and plant hormones. Furthermore, the transcript abundance of all <i>NPR1</i>-like genes in maize changed significantly under abiotic treatments (cold, heat, salt, or drought treatments), phytohormone treatments and pathogen treatment (<i>Ustilago maydis</i>), indicating that they might be involved in biotic and abiotic stresses. In addition, <i>ZmNPR1</i> is located in the cytoplasm, and overexpression of <i>ZmNPR1</i> improves the resistance of maize plants to <i>U. maydis</i>. The findings of the present study might provide important information on under standing the complexity of the <i>NPR1</i>-like genes and their functions in maize.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763418","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Generation of albino C57BL/6J mice by CRISPR embryo editing of the mouse tyrosinase locus.","authors":"M Kasim Diril, Kerem Esmen, Tugba Sehitogullari, Gizem Őztürk","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>After the arrival of the CRISPR/Cas9 genome editing technology, genetic engineering of model organisms has become much faster and more efficient. The development of genetically modified mouse models is also facilitated by the application of various CRISPR methodologies. Although the very first studies utilized pronuclear injection (PNI) of Cas9 mRNA and sgRNAs into the zygote stage embryos to create knockout and knockin mutations, the repertoire of techniques and collection of reagents for CRISPR editing has rapidly expanded. This presents researchers in the field with a versatility of choices for genetic engineering. However, there are not many comparative studies that analysed the efficacy of gene editing when Cas9 and sgRNA/ssDNA oligos were transferred to the embryos by different methodologies. Here, we aimed to compare two different methods, electroporation and PNI. One of the recent developments gaining wide use in mouse model research is the application of electroporation for the introduction of Cas9/sgRNA ribonucleoprotein complexes into zygote stage embryos. Here, we have used this technique to generate albino coat-coloured C57BL/6J mice by targeted inactivation of the mouse tyrosinase gene through indel or knockin mutations. We have also applied the PNI protocol with the same set of reagents, to compare the efficiency of the two techniques in generation of indel and knockin mutations. Although PNI results in signifi- cantly higher efficiency for knockin mutations, it requires specialized equipment setup and advanced training in embryo micromanipulation and microinjection. Therefore, for the generation of simple gene knockouts by indel mutations, electroporation can be used.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>THPO</i> promoter mutation: a familial study on congenital amegakaryocytic thrombocytopenia.","authors":"Reyhaneh Dehghanzad, Roghayeh Rahbar Parvaneh, Maryam Jamshidifar, Zahra Khaffafpour, Roghayeh Rahimi Afzal, Sharareh Kamfar, Bibi Shahin Shamsian, Mohammad Keramatipour","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare inherited bone marrow failure syndrome, which is characterized by a severe thrombocytopenia at birth without predictive stigmata and by a risk for progression into aplastic anaemia and myeloid malignancy. While CAMT primarily arises from mutations in the <i>MPL</i> gene, recent discoveries have linked biallelic <i>THPO</i> mutations to some CAMT cases. In addition, loss of function monoallelic mutations in this gene have been identified as causing benign autosomal dominant thrombocytopenia. In this study, we report a case of CAMT linked to a homozygous mutation in the promoter region of <i>THPO</i> (c.-324C>T, NM_000460.4). computational analysis indicates that this mutation suppresses the binding of some essential transcription factors to the <i>THPO</i> promoter. Family segregation analysis shows a significant reduction in platelet counts among carriers of the mutation. Our patient received allogeneic haematopoietic stem cell transplantation (HSCT) from her HLA-matched sister (MSD), who carries the mutation. After allogeneic HSCT, the patient showed 100% full donor chimerism, but 1 year after HSCT, despite full donor chimerism, the patient did not complete recover from platelet count, and she has received romiplostim several times. Understanding the MPL-THPO pathway is vital for managing CAMT, emphasizing the importance of identifying and assessing patients' mutations for tailored treatment.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093890","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gonadal mosaicism and paradoxical phenotype in <i>NEXMIF</i> encephalopathy: a case report of two siblings.","authors":"Naik Adarsha, Haseena Sait","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>The neurite extension and migration factor (NEXMIF) encephalopathy is an X-linked disorder that is characterized by intellectual disability, behavioural abnormalities and seizures. The majority of pathogenic variants are <i>de novo</i>. Here, we report two siblings with NEXMIF encephalopathy exhibiting variable clinical presentations. The younger female sibling (proband) presented predominantly with refractory myoclonic and atonic epilepsy and milder intellectual disability, and the male sibling exhibited severe intellectual disability, and significant behavioural abnormalities without seizures. Exome sequencing in the proband revealed a novel heterozygous stop gain variant c.3206C>A p.(Ser1069Ter) in the <i>NEXMIF</i> gene, which was validated by Sanger sequencing. Targeted sequencing in the male sibling revealed the hemizygous nature of the variant. The asymptomatic mother was found to carry the wild-type allele, suggesting the possibility of gonadal mosaicism. This report represents the second documented case of <i>NEXMIF</i> encephalopathy associated with gonadal mosaicism.</p>","PeriodicalId":15907,"journal":{"name":"Journal of Genetics","volume":"104 ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"生物学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}