Molecular Syndromology最新文献

{"title":"Remarkable Clinical Improvement after Folinic Acid Supplementation in Cerebral Folate Transport Deficiency and Epileptic Encephalopathy: A Case Report.","authors":"Çağatay Günay, Hande Gazeteci Tekin","doi":"10.1159/000553193","DOIUrl":"10.1159/000553193","url":null,"abstract":"<p><strong>Introduction: </strong>Folate plays a critical role in central nervous system development, particularly in myelin synthesis and neurotransmitter metabolism. Cerebral folate transport deficiency (CFTD), most often caused by biallelic pathogenic variants in the <i>FOLR1</i> gene, results in markedly reduced cerebrospinal fluid (CSF) folate levels despite normal systemic folate status. Affected individuals typically present with developmental regression, seizures, and movement disorders. Early diagnosis and folinic acid supplementation have been shown to reverse neurological symptoms, emphasizing the importance of prompt recognition.</p><p><strong>Case presentation: </strong>We describe a 6-year-old girl born to consanguineous parents who initially presented with autism spectrum disorder and drug-resistant epilepsy. Her seizures included myoclonic-atonic, generalized myoclonic, and focal seizures, with subsequent gait instability and ataxia. Neuroimaging revealed diffuse cerebral atrophy and white matter signal abnormalities. Subsequent genetic testing identified a homozygous <i>FOLR1</i> missense likely pathogenic variant (c.544T>A; p.Phe182Ile). The diagnosis was further confirmed by CSF analysis showing severe folate deficiency (5-MTHF: 4 nmol/L). Following initiation of oral folinic acid (4 mg/kg/day), seizures resolved completely, and substantial improvements were observed in ambulation, speech, and social interaction.</p><p><strong>Conclusion: </strong>This case illustrates that folinic acid supplementation can lead to remarkable neurological recovery, even with substantial diagnostic delay. <i>FOLR1</i>-related CFTD should be considered in children with refractory epilepsy and developmental regression.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13436976/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148674449","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Unraveling the Genetic Basis of Glycogen Storage Diseases through Exome Sequencing: A Study in Pediatric Patients.","authors":"Maryam Naseer, Muhammad Tariq, Nadia Waheed, Bushra Khan, Dost Muhammad Kalhoro, Shahid Ali, Hammal Khan, Amir Hussain, Naseeb Ullah Kakar, Abid Ali Shah, Sufyan Suleman, Asmat Ullah","doi":"10.1159/000553060","DOIUrl":"10.1159/000553060","url":null,"abstract":"<p><strong>Introduction: </strong>Glycogen storage diseases (GSDs) are a group of inherited metabolic disorders characterized by impaired glycogen metabolism, primarily affecting the liver and muscles.</p><p><strong>Methods: </strong>A retrospective cross-sectional study was conducted. Medical records of 72 children afflicted with GSDs were reviewed for clinical features, family history, and consanguinity. Sequencing was performed using DNA samples from patients and their family members.</p><p><strong>Results: </strong>Of the 72 patients, the median age at presentation was 5.0 months (interquartile range: 1.8-9.0). Common features included abdominal distension (97.2%), hepatomegaly (94.4%), doll-like facies (54.2%), and failure to thrive (53%). Other findings included acidotic breathing, developmental delay, vomiting, convulsions, and positive family history. All cases involved consanguinity. Thirty-eight pathogenic variants were identified across nine GSD-associated genes.</p><p><strong>Conclusion: </strong>Abdominal distension, hepatomegaly, and failure to thrive are key clinical indicators of GSDs. Genetic testing improves diagnostic accuracy and classification, and our findings expand the mutational spectrum of GSDs in Pakistan<b>.</b></p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427025/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypomelanosis of Ito with Local Overgrowth due to a Somatic Complex <i>MTOR</i> Gene Variant Consistent with Smith-Kingsmore Syndrome in One of Monozygotic Twins Detectable Only by RNA Sequencing: A Case Report.","authors":"Nazlı Balcan Karaca, Serdar Ceylaner, Nurşah Yeniay Süt, Nurettin Alıcı, Rabia Şen, Melike Akbal Şahin, Fatma Dereli Devrez, Arzu Yilmaz","doi":"10.1159/000553077","DOIUrl":"10.1159/000553077","url":null,"abstract":"<p><strong>Introduction: </strong>Smith-Kingsmore syndrome is a rare neurodevelopmental disorder that is caused by somatic variants in the <i>MTOR</i> gene. The present study reports on a monozygotic twin exhibiting hypomelanosis of Ito and localized brain overgrowth, attributable to a complex somatic MTOR variant, which is only detectable by RNA sequencing (RNAseq).</p><p><strong>Case presentation: </strong>A 9-year-old girl with a healthy monozygotic twin developed seizures at the age of 3 months. Due to refractory epilepsy and focal cortical dysplasia identified on brain magnetic resonance imaging, she underwent resective epilepsy surgery at the age of 5 years. Despite initial seizure control, seizures later persisted, and by the age of 9 years, she exhibited progressive autism spectrum features and intellectual impairment. Whole exome sequencing performed on a blood sample was unremarkable. On re-evaluation, faint Blaschko lines were observed under mobile phone light, raising suspicion of somatic mosaicism. Due to technical limitations of DNA-based testing in paraffin-embedded brain tissue, RNAseq of affected tissue was performed, revealing a complex somatic MTOR variant. Treatment with the mTOR inhibitor sirolimus resulted in approximately 50% reduction in seizure frequency and improvement in autistic features and verbal communication.</p><p><strong>Conclusions: </strong>This case highlights several important clinical insights. The presence of discordant clinical features in monozygotic twins may be indicative of mosaicism. Cutaneous findings, such as Blaschko lines, may be subtle and easily overlooked. The concept of mosaicism should be considered in the context of localized brain dysplasias. RNAseq has been identified as a valuable diagnostic tool, particularly in challenging samples such as paraffin-embedded tissues, where conventional genomic methods may be limited.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13432954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148670969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of the Impact of a PUS7 Gene Variant on Dental Development: A Rare Case Report.","authors":"Büşra Karaduran, Gülhanım Memiş, Canberk Toprak, Volkan Karaman, Mine Koruyucu, Ayça Dilruba Aslanger, Güven Toksoy, Zehra Oya Uyguner","doi":"10.1159/000553115","DOIUrl":"10.1159/000553115","url":null,"abstract":"<p><strong>Introduction: </strong>Pseudouridylation, the enzymatic isomerization of uridine to pseudouridine, is a widespread posttranscriptional RNA modification that contributes to RNA stability and regulation of gene expression. The <i>PUS7</i> gene encodes pseudouridine synthase 7 (PUS7), and its biallelic pathogenic variants have been associated with a syndromic neurodevelopmental disorder characterized by intellectual disability, microcephaly, behavioral abnormalities, growth retardation, and facial dysmorphism. Recent data indicate that PUS7 interacts with SIRT1, a key regulator of the Wnt/β-catenin signaling pathway, suggesting that PUS7 dysfunction may indirectly influence odontogenesis.</p><p><strong>Case presentation: </strong>We report a boy patient born to consanguineous parents, in whom exome sequencing identified a novel homozygous truncating variant in <i>PUS7</i> (NM_019042.5): c.1097_1098del p.(Leu366GLnfs*7). Clinical assessment revealed neurodevelopmental delay, facial dysmorphism, and dental anomalies. At 28 months of age, the mandibular primary lateral incisors (72 and 82) were absent, whereas the mandibular central incisors exhibited a conical morphology.</p><p><strong>Conclusion: </strong>Although dental anomalies have been reported in <i>PUS7</i>-related disorders, the abnormalities may be overlooked in children with neuromotor delay. Conical teeth appear to be a more distinctive and clinically recognizable feature, as observed in our patient. Further studies are needed to clarify the role of <i>PUS7</i> variants in dental development and genotype-phenotype correlations.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654735","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Case Report: Diagnostic Route of a Patient with PLA2G6-Infantile Neuroaxonal Dystrophy and Familial Hyperlipidemia.","authors":"Ayşenur Engin Erdal, Ahmet Cevdet Ceylan, Hamit Özyürek, Berrak Bilginer Gürbüz, Aynur Küçükçongar Yavaş, Çiğdem Seher Kasapkara","doi":"10.1159/000552885","DOIUrl":"10.1159/000552885","url":null,"abstract":"<p><strong>Introduction: </strong>The <i>PLA2G6</i> gene, located on chromosome 22, is responsible for the synthesis of phospholipase A2, an enzyme that breaks down the fatty acyl groups of phospholipids. As a result of pathogenic variants of the gene, enzyme activity is impaired and oxidative damage occurs in phospholipid membranes.</p><p><strong>Case presentation: </strong>A 17-month-old girl presenting with complaints of delayed walking and hearing loss was evaluated for inherited metabolic disorders. Metabolic screening revealed elevated levels of C22 and C24 in the very long-chain fatty acids (VLCFAs) analysis. First of all, <i>PEX</i> gene testing and then whole exome sequencing (WES) did not reveal any peroxisomal or inherited metabolic disorders; however, a heterozygous pathogenic variant was identified in the <i>LDLR</i> gene, which may explain the patient's elevated cholesterol levels. The patient's brain magnetic resonance imaging revealed bilateral posterior periventricular deep white matter hyperintensities, with subsequent development of cerebellar atrophy. Whole genome sequencing analysis identified a pathogenic homozygous variant in the deep intronic region of the <i>PLA2G6</i> (NM_003560.4: c.2035-926G>A) gene according to the ACMG 2015 criteria. Our patient was diagnosed with <i>PLA2G6</i>-infantile neuroaxonal dystrophy.</p><p><strong>Conclusion: </strong>Hyperlipidemia is a common finding, and it can cause misleading elevations in VLCFAs. This case report highlights the importance of detailed genetic analysis in the diagnosis of such cases.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13427024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148654773","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"When the Clinical Picture Demands More: Dual Diagnosis of Neurofibromatosis Type 1 and Auriculocondylar Syndrome 2A in a Pediatric Case.","authors":"Abdulkerim Kolkiran, Firdevs Dinçsoy Bir, Melike Ataseven Kulalı, Hasibe Gökçe Çınar, Göknur Topaloğlu Yasan, Hakan H Tüz, Mehmet Citirik, Hale Sandıklı İskenderli, Ergin Atasoy","doi":"10.1159/000553043","DOIUrl":"10.1159/000553043","url":null,"abstract":"<p><strong>Introduction: </strong>Neurofibromatosis type 1 (NF1) and auriculocondylar syndrome 2A (ARCND2A) are distinct rare genetic disorders, each with characteristic clinical features. The simultaneous occurrence of these two syndromes is exceptionally rare and poses significant diagnostic challenges, especially in pediatric patients with complex phenotypes.</p><p><strong>Case presentation: </strong>We report a 3-year-old Turkish girl who presented with multiple café-au-lait macules and dysmorphic facial features. Initial single-gene sequencing revealed a variant in the NF1 gene; however, the presence of severe craniofacial anomalies prompted further investigation. Clinical exome sequencing identified a likely pathogenic <i>PLCB4</i> variant, establishing a dual molecular diagnosis of NF1 and ARCND2A. Comprehensive radiological assessment, including brain and orbital MRI with temporal bone CT, and maxillo-mandibular computed cone beam tomography (CBCT), revealed both craniofacial anomalies and central nervous system lesions consistent with ARCND2A and NF1. Notable findings included dehiscence in the left superior semicircular canal, mandibular and left sphenoid wing hypoplasia, as well as NF1-related hamartomatous lesions and optic pathway involvement.</p><p><strong>Conclusion: </strong>The coexistence of NF1 and ARCND2A in a single pediatric patient complicates the clinical picture due to overlapping and atypical features. This dual diagnosis highlights the importance of considering multiple genetic etiologies when clinical findings cannot be fully explained by a single disorder. This case underscores the critical role of comprehensive genomic and radiological evaluation in children with unexplained or complex presentations. Recognizing the potential for multilocus genetic diagnoses is essential for accurate diagnosis, management, and genetic counseling.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13423370/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148632377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multinodular and Vacuolating Neuronal Tumor in a Pediatric Patient with Klinefelter Syndrome and 5q33.1 Deletion: A Rare Clinical and Genetic Case Study.","authors":"Serap Ketenci-İşlek, Gizem Ürel-Demir, Ceren Günbey, Ekim Gümeler, Nagihan Şener, Hilal Susam Şen, Bilgehan Yalçın, Gülen Eda Utine, Dilek Yalnızoğlu, Pelin Özlem Şimşek-Kiper","doi":"10.1159/000552977","DOIUrl":"https://doi.org/10.1159/000552977","url":null,"abstract":"<p><strong>Introduction: </strong>Klinefelter syndrome is most commonly associated with a 47,XXY karyotype, though rarer variants such as 48,XXXY, 48,XXYY, 49,XXXXY, and mosaic forms occur. The clinical spectrum includes intellectual disability, psychiatric disorders, endocrinopathies, and infertility, while epilepsy is rarely reported. The syndrome is also linked to an increased risk of malignancies, including breast cancer and mediastinal germ cell tumors. Multinodular and vacuolating neuronal tumors (MVNTs) are rare glioneuronal neoplasms.</p><p><strong>Case presentation: </strong>We report a 9-year-old male with a 2-year history of epilepsy, in whom brain MRI revealed an MVNT in the left posterior temporal lobe. Chromosomal microarray analysis showed a 2.5 Mb duplication at Xp22.33, a 152.9 Mb duplication from Xp22.33 to Xq28, and a 280 kb deletion at 5q33.1. Karyotyping confirmed a 47,XXY karyotype, consistent with Klinefelter syndrome.</p><p><strong>Conclusion: </strong>While MVNTs are typically sporadic or monogenic, this case raises the possibility of an association with Klinefelter syndrome. To our knowledge, this is the second reported case, contributing to the expanding clinical and genetic spectrum of Klinefelter syndrome-associated neurological findings.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13412411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148622153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and Molecular Findings in Two Siblings with a Novel Homozygous <i>DCAF17</i> Frameshift Variant and Review of the Literature: A Case Report.","authors":"Simge Tuana Ay Öner, Elif Yılmaz Güleç","doi":"10.1159/000552786","DOIUrl":"https://doi.org/10.1159/000552786","url":null,"abstract":"<p><strong>Introduction: </strong>Woodhouse-Sakati syndrome (WSS) is an ultra-rare autosomal recessive multisystem disorder caused by biallelic pathogenic variants in <i>DCAF17</i>. The condition is characterized by endocrine dysfunction, ectodermal abnormalities, and variable neurological involvement, with considerable intra- and inter-familial phenotypic heterogeneity.</p><p><strong>Case presentation: </strong>We report two siblings born to consanguineous parents who presented with short stature, delayed puberty, partial alopecia, and hypogonadism. The male sibling had hypogonadotropic hypogonadism and intermittent hyperglycemia, while the female sibling showed delayed pubertal development with bilaterally atrophic ovaries. Brain magnetic resonance imaging demonstrated iron accumulation in the globus pallidus in both patients, without overt extrapyramidal symptoms. Molecular analysis identified a novel homozygous frameshift variant in exon 13 of <i>DCAF17</i> (NM_025000.4: c.1382_1383del; p.Thr461Ilefs*3), predicted to cause loss of function and classified as pathogenic according to ACMG/AMP criteria; segregation analysis confirmed parental heterozygosity.</p><p><strong>Conclusion: </strong>Although a definitive genotype-phenotype correlation for <i>DCAF17</i> has yet to be established, the phenotypic overlap between our patients and previously reported cases supports the clinical consistency of WSS. The observation of persistent erythrocyturia and hemoglobinuria in both siblings represents an additional clinical finding; however, its relationship to WSS remains uncertain and requires further investigation. The identification of this novel pathogenic <i>DCAF17</i> variant further broadens the mutational spectrum of the disorder.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13476085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148765571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Association of <i>FMR1</i> Gene Low-Normal and High-Normal Alleles with Ovarian Dysfunctions: A Retrospective Analysis from the Turkish Population.","authors":"Hatice Kocak Eker, Levent Simsek, Busra Eser Cavdartepe, Ozgur Balasar, Muserref Basdemirci, Ebru Tuncez, Fahrettin Duymus","doi":"10.1159/000552783","DOIUrl":"10.1159/000552783","url":null,"abstract":"<p><strong>Introduction: </strong>The FMR1 gene, located at Xq27.3, exhibits varying phenotypic effects based on CGG repeat expansions. The aim of this study was to determine the triple repeat distribution in females and to evaluate the relationship between low-normal (<i>n</i> < 26) and/or high-normal (<i>n</i> > 34) alleles and various ovarian dysfunctions.</p><p><strong>Methods: </strong>A retrospective analysis was conducted on 152 females tested for FMR1 CGG repeats at Konya City Hospital (2021-2022). Normal/intermediate alleles were categorized as low-normal, normal, or high-normal and their distributions were analyzed in women presenting with various forms of ovarian dysfunction, with a particular focus on premature ovarian insufficiency (POI).</p><p><strong>Results: </strong>Two (1.4%) cases had full mutations, and nine (6.5%) carried premutations, with POI present in 55.6% of premutation carriers. POI was the most common referral reason (54.7%). The median value for short and long alleles was observed to be 29-31. The low-normal allele frequency was 13.6% (POI), 18.8% (primary amenorrhea), 25% (secondary amenorrhea), and 14.3% (infertility), while high-normal alleles were 12.1% (POI), 12.5% (primary amenorrhea), 5% (secondary amenorrhea), and 0% (infertility).</p><p><strong>Conclusion: </strong>This study reinforces the role of FMR1 premutations in POI etiology and suggests a potential association between low-normal/high-normal CGG repeats and various ovarian dysfunctions. It also represents the first analysis of normal/intermediate range repeat distribution in a Turkish cohort.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13395465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580838","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"<i>MLIP</i>-Related Myopathy: Two Unreported Pathogenic Variants - A Case Report.","authors":"Leopoldo Gildardo López-Pérez, Esther Youn, Hyunjung Kim, Seung Woo Ryu, Alberto Tlacuilo-Parra, Luz Elena Armejo-Chavez, Carolina Pérez-Ornelas","doi":"10.1159/000552794","DOIUrl":"10.1159/000552794","url":null,"abstract":"<p><strong>Introduction: </strong>The muscle disorder known as myopathy with myalgia, increased serum levels of creatine kinase, and with or without episodic rhabdomyolysis-1 (MMCKR1) (MIM: 620138) is a <i>MLIP</i>-related myopathy characterized by muscle cramps and stiffness on exertion with a variable age at onset, cardiac involvement, episodic spikes of high levels of CK, and rhabdomyolysis. Electromyography shows myopathic changes, and muscle biopsy shows nonspecific myopathic and degenerative features. To date, around 15 cases have been reported worldwide.</p><p><strong>Case presentation: </strong>Here, we describe 2 cases with <i>MLIP</i>-related myopathy: case 1 was a compound heterozygous for c.645+2T>C and c.1905_1912del in the <i>MLIP</i> gene and case 2 was homozygous for c.1905_1912del. We described their findings and compared them with previously reported cases.</p><p><strong>Conclusion: </strong>Here, we report the first two Mexican cases with <i>MLIP</i>-related myopathy; they showed two previously unreported variants. In both cases, the predominant clinical manifestations were muscle stiffness triggered by walking or running. No case presented myalgia, cramps, or rhabdomyolysis. We highlight the joint, neurological, and behavioral findings in case 1, none of which have been previously described in patients with <i>MLIP</i>-related myopathy.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13395464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148580798","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}