Molecular Syndromology最新文献

{"title":"A Novel Intragenic Duplication of CREBBP in Rubinstein-Taybi Syndrome: A Case Report Expanding the Genotype-Phenotype Spectrum.","authors":"Enes Dursun, Eyyup Uctepe, Serhat Guler, Hanifenur Mancilar, Ahmet Yesilyurt","doi":"10.1159/000547120","DOIUrl":"10.1159/000547120","url":null,"abstract":"<p><strong>Introduction: </strong>Rubinstein-Taybi syndrome (RSTS) is most often caused by loss-of-function variants in <i>CREBBP</i>; intragenic duplications are rare and extremely under-recognized.</p><p><strong>Case presentation: </strong>We describe a 5-year-old girl with global developmental delay, intellectual disability, frontal bossing, upslanted palpebral fissures, broad angulated halluces, and scoliosis. Whole-exome sequencing with copy number analysis revealed a heterozygous de novo duplication of approximately 13 kb encompassing exons 7-16 of <i>CREBBP</i> (NM_004380.3). Multiplex ligation-dependent probe amplification confirmed the duplication in the proband and excluded it in both parents. The event is predicted to introduce a frameshift, leading to premature truncation. No additional pathogenic variants were detected.</p><p><strong>Conclusion: </strong>This is the first reported <i>CREBBP</i> duplication spanning exons 7-16, expanding the mutational spectrum of RSTS and illustrating that intragenic duplications can manifest with a partially atypical craniofacial profile. The case underscores the value of incorporating high-resolution copy number interrogation into RSTS workflows when single nucleotide variant analysis is uninformative and supports systematic deposition of such variants to refine genotype-phenotype correlations.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"169-173"},"PeriodicalIF":0.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12503515/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145253377","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":"Identification of the Genetic Causes of Inherited Diseases in a North African Biobank: Implications for Genetic Diagnosis.","authors":"Majida Charif, Saida Lhousni, Ayad Ghanam, Maria Rkain, Noufissa Benajiba, Rim Amrani, Abdeladim Babakhouya, Sahar Messaoudi, Aziza Elouali, Anass Ayyad, Abdeljaouad Najib, Omar El Mahi, Adnane Benzirar, Mehdi Moutaouekkil, Sanae Allaoui, Mohammed Benahmed, Manal Elidrissi Errahhali, Mounia Elidrissi Errahhali, Aymane Bouzidi, Meryem Ouarzane, Antony T Vincent, Adnane Sellam, Guy Lenaers, Redouane Boulouiz, Mohammed Bellaoui","doi":"10.1159/000546908","DOIUrl":"10.1159/000546908","url":null,"abstract":"<p><strong>Introduction: </strong>In North Africa, genetic diseases are widespread but under-studied due to limited research resources. This study used exome sequencing to identify disease-causing variants in a large series of Moroccan patients with suspected genetic diseases.</p><p><strong>Methods: </strong>A cohort of 30 patients with genetic diseases from the BRO Biobank underwent exome sequencing. Candidate variants were evaluated by segregation analysis and molecular modeling.</p><p><strong>Results: </strong>Thirty-one variants were identified in 27 known genes. Interestingly, 54.8% of these variants were novel and therefore could be specific to the Moroccan population. Pathogenic or likely pathogenic disease-causing variants were identified in 22 of 30 patients, leading to a genetic testing yield of 73.3%. Moreover, the identified variants, classified as of uncertain significance, likely benign or benign, were predicted to alter protein structure using in silico modeling of 3D protein structure. The diagnosis was changed in 23% of patients with suspected genetic syndromes, and the etiology was determined in all patients with unrecognizable genetic disorder.</p><p><strong>Conclusion: </strong>This study represents the largest biobank-based study of inherited diseases in a North African country. It illustrates the genetic variability of the Moroccan population and improves our understanding of genotype-phenotype correlations. Furthermore, the relatively high yield of genetic testing obtained in this study justifies the need to implement exome sequencing in the clinical setting in Morocco for better genetic diagnosis.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"17 2","pages":"101-111"},"PeriodicalIF":0.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13046371/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147624250","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":"Molecular Genetic Confirmation of Jaffe-Campanacci Syndrome: A Case Report of the Third Identified Pathogenic <i>NF1</i> Variant.","authors":"Abdulkerim Kolkiran, Firdevs Dinçsoy Bir, Bilgesu Arıkan Ergün, Alişan Daylak, Mehmet Citirik, Melike Ataseven Kulalı","doi":"10.1159/000551849","DOIUrl":"10.1159/000551849","url":null,"abstract":"<p><strong>Background: </strong>Jaffe-Campanacci syndrome (JCS) is a rare phenotypic variant of neurofibromatosis type 1 (NF1), characterized by café-au-lait macules (CALMs), multiple non-ossifying fibromas (NOFs), and occasionally central giant cell granulomas (CGCG) of the jaw. Although fewer than 30 cases have been reported to date, molecular genetic confirmation remains limited. This report presents the third known case of a confirmed pathogenic <i>NF1</i> variant.</p><p><strong>Case presentation: </strong>A 13-year-old boy with a history of multiple CALMs, axillary and inguinal freckling, Lisch nodules, and multiple NOFs in the lower extremities was diagnosed with JCS. Genetic testing revealed a pathogenic splice-site variant in <i>NF1</i>, confirming the molecular diagnosis. In addition, Sanger sequencing of DNA extracted from the affected cystic lesion tissue obtained during surgery identified the same variant, further supporting the diagnosis. Radiological findings, including lytic bone lesions in the lower extremities and brain MRI changes consistent with NF1, further supported this diagnosis. The patient also presented with a mild intellectual disability and attention-deficit/hyperactivity disorder.</p><p><strong>Discussion: </strong>This case highlights the clinical challenges and diagnostic complexity of JCS, which is a rare subtype of NF1. The patient's molecular confirmation adds to the growing body of evidence, supporting genetic testing of rare <i>NF1</i> variants. The absence of CGCGs in this case underscores the broad phenotypic spectrum of JCS. A comprehensive evaluation, including molecular testing, is critical for accurate diagnosis and management.</p><p><strong>Conclusion: </strong>This case reinforces the importance of considering rare NF1 subtypes, such as JCS, in patients presenting with multiple NOFs and typical skin findings. Early genetic confirmation is invaluable for guiding diagnosis and management, emphasizing the need for a multidisciplinary approach in rare genetic syndromes.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13259000/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148254064","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":"Targeted Clinical Analysis of PTPN11, SOS1, and NRAS Mutations and Associated Cardiac, Auditory, and Ophthalmologic Findings in Noonan Syndrome Patients.","authors":"Vesile Deniz Celik, Tugba Halici, Omar Alomari","doi":"10.1159/000546683","DOIUrl":"10.1159/000546683","url":null,"abstract":"<p><strong>Background: </strong>Noonan syndrome (NS) is a genetic disorder inherited as an autosomal dominant or sporadic trait, characterized by distinctive facial features, congenital heart defects, short stature, mental retardation, and sensory impairments. The aim was to investigate the clinical correlations of selected variants in the PTPN11, SOS1, and NRAS genes with ophthalmologic, audiologic, and psychometric findings in patients clinically diagnosed with NS.</p><p><strong>Methods: </strong>Thirty-two patients (8 females and 24 males) clinically diagnosed with NS and aged between 6 months and 18 years were included. Genetic testing was performed for PTPN11, SOS1, and NRAS genes. Patients underwent standardized examinations by the same ophthalmologist, audiologist, and psychologist. A comprehensive database of findings was created, and statistical analyses were performed using SPSS 17.</p><p><strong>Results: </strong>Molecular analysis revealed variants in <i>PTPN11</i> gene in 37.5% (12/32), <i>SOS1</i> related variants in 9.4% (3/32), and <i>NRAS</i>-related variant in 3.1% (1/32). Ophthalmologic assessments indicated astigmatism in 8 patients and myopia in 5. Hearing loss was identified in 21.9% (7/32) of the cohort, with two <i>PTPN11</i> and one <i>NRAS</i> mutation-positive patients affected. Psychometric evaluations showed mental retardation in 40.6% (13/32), with a significant proportion of <i>PTPN11</i> mutation-positive patients affected.</p><p><strong>Conclusion: </strong>The study found no significant relationships between genetic mutations and ophthalmologic, audiologic, or psychometric outcomes. Further investigations with larger sample sizes are necessary to elucidate the genotype-phenotype correlations in NS.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"17 2","pages":"123-134"},"PeriodicalIF":0.8,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13046378/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147624160","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":"SHH Variant in a Father and a Son with Tracheobronchial Malformation.","authors":"Suzan J G Knottnerus, Sabine M P J Prevaes, Maartje J Geerlings, Erik-Jan Kamsteeg, Joppe Nijman, Pim A de Jong, Charlotte I de Bie, Adriane D M Vorselaars","doi":"10.1159/000551811","DOIUrl":"10.1159/000551811","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital tracheobronchial stenosis (CTBS) is a rare disease of in most cases unknown etiology. In a previous cohort of patients with CTBS, a mosaic variant in the <i>SHH</i> gene was identified.</p><p><strong>Case presentation: </strong>We hereby report a son (case 1) and his father (case 2) with tracheobronchial malformation. In the severely affected proband, a rare <i>SHH</i> variant (c.376G>A p.[Glu126Lys]) was found, which appeared to be inherited from his father who had a similar clinical phenotype. This variant was found to be de novo in the father.</p><p><strong>Conclusion: </strong>We identified a variant in <i>SHH</i> as a possible cause of familial tracheobronchial malformation. This case underscores a possible association between the <i>SHH</i> gene and trachea development. Notably, this variant can present with severe symptoms in infancy, but signs and symptoms may be more attenuated in adulthood.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13246012/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148213054","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":"CHOPS Syndrome: A Rare Malformation Syndrome with de novo AFF4 Gene Variant.","authors":"Irem Gokdemir, Sirmen Kizilcan Cetin, Esra Kilic, Gonul Buyukyilmaz, Duygu Deligozoglu, Fatih Gurbuz, Mehmet Boyraz","doi":"10.1159/000551813","DOIUrl":"10.1159/000551813","url":null,"abstract":"<p><strong>Introduction: </strong>CHOPS syndrome is a rare, multisystem disorder caused by heterozygous pathogenic variants in the <i>AFF4</i> gene. The acronym CHOPS is characterized by Cognitive impairment and coarse facial features (C), Heart defects (H), Obesity (O), Pulmonary involvement (P), and Short stature/skeletal dysplasia (S). The syndrome is caused by variants in <i>AFF4</i>, which encodes a protein critical for RNA polymerase II elongation and transcriptional regulation.</p><p><strong>Case presentation: </strong>A 6-year-old male patient with CHOPS syndrome was diagnosed with a heterozygous de novo c.764C>T (p.Ala255Val) variant in <i>AFF4</i>. The patient exhibited significant growth failure despite an adequate growth hormone response. Also, the patient presented with impairment, dysmorphic features, and neuroimaging findings indicative of cortical atrophy and corpus callosum hypoplasia. Additional features included congenital cataracts, laryngomalacia, and mild mitral insufficiency.</p><p><strong>Conclusion: </strong>This case report of CHOPS syndrome, caused by a de novo <i>AFF4</i> variant, highlights the multifactorial nature of growth and neurodevelopmental disturbances. Early genetic diagnosis and a multidisciplinary approach are essential for optimal patient care.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13249432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148220196","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":"Role of Hyperlipidemia-Related <i>PCSK9</i>, <i>APOE</i>, and <i>LRP8</i> Variants in Restenosis after Stent Implantation in Male Patients: A Case-Control Study.","authors":"Gulcin Ozkara, Ezgi Irmak Aslan, Ozgur Selim Ser, Onur Kilicarslan, Ozlem Kucukhuseyin, Cem Bostan, Ahmet Yildiz, Oguz Ozturk, Hulya Yilmaz-Aydogan","doi":"10.1159/000551786","DOIUrl":"10.1159/000551786","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to evaluate the contribution of hyperlipidemia-related genetic variants, including protein convertase subtilisin/kexin type 9 (<i>PCSK9</i>; rs374603772, rs67608943, rs2182833, rs11206510), apolipoprotein E (<i>APOE</i>) epsilon alleles, and low-density lipoprotein receptor-related protein 8 (<i>LRP8</i>, also known as <i>APOE2R</i>; rs5174) to restenosis susceptibility in male patients with coronary artery disease (CAD) following stent implantation.</p><p><strong>Methods: </strong>A case-control design was applied, including male patients who developed restenosis (R; <i>n</i> = 85) and those without restenosis after stenting (OS; <i>n</i> = 66). Genetic variants were analyzed using fluorescent end-point PCR, and genotype-phenotype associations were assessed in relation to metabolic and clinical parameters.</p><p><strong>Results: </strong>Compared with the OS group, patients in the R group exhibited higher LDL cholesterol levels, increased prevalence of hyperlipidemia, and lower HDL cholesterol levels (all <i>p</i> < 0.05). After correction for multiple comparisons, genotype analysis showed that the <i>LRP8</i> rs5174 AA genotype was more prevalent in the R group (<i>p</i> = 0.009). No significant differences were observed for <i>APOE</i> epsilon, <i>PCSK9</i> rs2182833, or rs11206510 genotypes. Notably, within the R group, the <i>PCSK9</i> rs2182833 AA genotype was more frequently observed among nondiabetic and normolipidemic patients, indicating a possible association with a more favorable metabolic profile. Multivariate analysis identified hyperlipidemia and the <i>LRP8</i> rs5174 AA genotype as independent risk factors for restenosis.</p><p><strong>Conclusion: </strong>These findings suggest <i>LRP8</i> rs5174 polymorphism may act as a potential modifier for restenosis risk in male patients with CAD. Furthermore, the observed association between <i>PCSK9</i> rs2182833 and metabolic traits appears suggestive and context-dependent. Collectively, the results underscore the potential contribution of these lipid-related genetic variations to restenosis susceptibility and highlight the need for validation in larger cohorts.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13241159/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148200821","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":"Severe Thrombocytopenia and Facial Asymmetry in a Mexican Patient with Noonan Syndrome-Like Disorder with Loose Anagen Hair: Clinical Observations and Diagnostic Considerations.","authors":"Luis Felipe León-Madero, Andrea Stefanía Martínez-Balda, Carlos Alberto Venegas-Vega","doi":"10.1159/000551580","DOIUrl":"10.1159/000551580","url":null,"abstract":"<p><strong>Introduction: </strong>Noonan syndrome-like disorder with loose anagen hair 1 is a rasopathy caused by pathogenic variants in the <i>SHOC2</i> gene, characterized mainly by short stature, facial dysmorphisms and ectodermal alterations.</p><p><strong>Case presentation: </strong>This case describes an 18-year-old female with the pathogenic variant c.4A>G in <i>SHOC2</i>, severe thrombocytopenia and facial asymmetry, features not currently considered part of the phenotype. While thrombocytopenia may be associated with the <i>SHOC2</i> variant, a direct causal relationship cannot be definitively established, and the possibility of coexisting autoimmune disorders, such as systemic lupus erythematosus, could not be excluded.</p><p><strong>Conclusion: </strong>This case underscores the importance of early molecular diagnosis and comprehensive hematological monitoring in patients with rasopathies, highlighting the potential for life-threatening complications. Systematic reviews involving larger cohorts are needed to better define the clinical spectrum of NSLH1 and refine management strategies for potential complications.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13193717/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148018337","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 Rare Cause of Thyroid Hormone Abnormalities in an Adolescent: A Case Report of SBP2 (SECISBP2) Deficiency.","authors":"Sevgi Özdemir Akgün, Gizem Leyla Bolaç Özyılmaz, Ümran Çetinçelik, Aydilek Dağdeviren Çakır, Ahmet Uçar","doi":"10.1159/000551282","DOIUrl":"10.1159/000551282","url":null,"abstract":"<p><strong>Introduction: </strong>Selenocysteine insertion sequence (SECIS)-binding protein 2 (SBP2) (SECISBP2) is essential for selenoprotein synthesis. Selenoproteins play critical roles in cellular redox homeostasis, antioxidant defense, and thyroid hormone metabolism. Deiodinases (DIOs) are selenoenzymes that catalyze the deiodination of iodothyronine and are important for thyroid hormone activation and inactivation. Mutations in SBP2, which facilitates the incorporation of selenium into selenoproteins, lead to defective production of DIOs.</p><p><strong>Case presentation: </strong>A 13-year-and-6-month-old female patient presented with constipation and abnormal thyroid function tests. Laboratory tests revealed elevated free T4 (25.5 ng/L), normal TSH (1.2 mIU/L), low free T3 (2.3 ng/L), and decreased serum selenium level (14.37 μg/L). The patient exhibited speech and language delay, along with learning difficulties. These findings suggested SBP2 deficiency. Genetic analysis revealed a previously reported homozygous pathogenic variant, c.358C>T (p.Arg120Ter) in the <i>SECISBP2</i> gene.</p><p><strong>Conclusion: </strong>This case highlights the importance of considering SBP2 deficiency in patients presenting with discordant thyroid function tests - namely, elevated free T4, low free T3, and normal TSH - especially when accompanied by neurological or developmental features such as speech delay and learning difficulties.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13229507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148158585","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":"Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance.","authors":"Mustafa Kılıç, Esra Sayar, Suzan İcil, Abdullah Sezer","doi":"10.1159/000551573","DOIUrl":"10.1159/000551573","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary fructose intolerance (HFI) is an autosomal recessive inherited metabolic disorder characterized by a deficiency of the fructose-1-phosphate aldolase (aldolase B) enzyme, caused by biallelic pathogenic variants in the <i>ALDOB</i> gene on chromosome 9q31.1.</p><p><strong>Methods: </strong>We retrospectively analyzed the demographic, clinical, biochemical, and molecular genetic characteristics of 9 patients from eight unrelated Turkish families diagnosed with HFI over the past 10 years at a single center.</p><p><strong>Results: </strong>Patients with HFI showed an aversion to sugar-containing foods and generally had a favorable prognosis. The most common presenting complaints or reasons for referral to our clinic in this cohort were vomiting, hepatosteatosis, and elevated transaminases. Fructose aversion was present in all patients, representing a protective adaptive behavior rather than a complaint, and was therefore not reported as a symptom. Hypoglycemic syncope was observed in only 1 patient, while no significant hypoglycemia or metabolic acidosis was detected in the others. Urinary reducing substances and urine sugar chromatography were negative, likely due to the avoidance of fructose-containing foods. The p.Ala150Pro and p.Ala175Asp were identified as the most frequent variants. Homozygous variants (87.5%) were more common than compound heterozygous variants (12.5%).</p><p><strong>Conclusion: </strong>Genetic analysis of the <i>ALDOB</i> gene should be performed in patients with clinically suspected HFI to confirm the diagnosis. The p.Ala150Pro and p.Ala175Asp variants were the most frequent, consistent with previous reports in Turkish patients and individuals of European ancestry.</p>","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.8,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13186570/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147983917","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}