Molecular Syndromology最新文献

Erratum. 勘误表。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-06-19 DOI: 10.1159/000546546

引用次数: 0

Pamidronate Treatment of a Patient with Opsismodysplasia and a Novel INPPL1 Variant: Efficacy, Mechanism, and Clinical Outcomes. 帕米膦酸盐治疗Opsismodysplasia患者和一种新的INPPL1变异：疗效、机制和临床结果。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-06-03 DOI: 10.1159/000546324

Gulin Tabanli, Filiz Hazan, Gulsen Ozer, Ozge Koprulu, Ozlem Nalbantoglu, Behzat Ozkan

引用次数: 0

A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review. 一种与ZTTK综合征罕见临床特征相关的SON基因新变异：1例报告及文献复习。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-28 DOI: 10.1159/000546621

Kubra Ates, Murat Ozturk, Zeynep Esener, Ahmet Sigirci, Ibrahim Tekedereli

{"title":"A Novel SON Gene Variant Associated with Rare Clinical Features in ZTTK Syndrome: A Case Report and Literature Review.","authors":"Kubra Ates, Murat Ozturk, Zeynep Esener, Ahmet Sigirci, Ibrahim Tekedereli","doi":"10.1159/000546621","DOIUrl":"10.1159/000546621","url":null,"abstract":"Introduction: Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is a rare multisystemic congenital disorder caused by SON gene variants. This study aimed to present the results of whole exome sequencing, and describe some rare findings observed in the proband.Case presentation: An 11-year-old boy exhibited hypotonia, poor growth, short stature, and microcephaly. The patient displayed various neurological symptoms, such as developmental delay, seizures, hydrocephalus, and brain abnormalities. He presented with strabismus, urinary problems, and facial dysmorphism. A history of stroke, obsession, insomnia, self-injurious behavior, and hearing loss was also noted. Based on the patient's clinical findings, whole exome sequencing was performed. A novel variant in the SON gene was identified. This variant was confirmed by Sanger sequencing. Notably, the parents tested normal for the variant.Conclusion: This study presents a patient who exhibited a wide range of behavioral abnormalities, stroke, and recurrent urolithiasis - features that are rarely reported in ZTTK syndrome - and includes a review of the literature.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":""},"PeriodicalIF":0.9,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12237425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144601971","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}

引用次数: 0

Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome. PAR1/2数目异常可影响特纳综合征的效应T细胞亚群。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-20 DOI: 10.1159/000546378

Ai Miyakoshi, Sumiko Sueyoshi, Akifumi Ijuin, Haru Hamada, Mayuko Nishi, Shiori Tochihara, Marina Saito, Hiroe Ueno, Michi Kasai, Shin Saito, Ryoko Asano, Taichi Mizushima, Etsuko Miyagi, Mariko Murase, Miki Tanoshima, Hideya Sakakibara, Tomonari Hayama

{"title":"Abnormal PAR1/2 Number Can Influence Effector T Cell Subsets in Turner Syndrome.","authors":"Ai Miyakoshi, Sumiko Sueyoshi, Akifumi Ijuin, Haru Hamada, Mayuko Nishi, Shiori Tochihara, Marina Saito, Hiroe Ueno, Michi Kasai, Shin Saito, Ryoko Asano, Taichi Mizushima, Etsuko Miyagi, Mariko Murase, Miki Tanoshima, Hideya Sakakibara, Tomonari Hayama","doi":"10.1159/000546378","DOIUrl":"10.1159/000546378","url":null,"abstract":"Introduction: Turner syndrome is a complicated gonadal insufficiency, infertility, and endocrine disease caused by the partial to complete loss of one X chromosome. Women with Turner syndrome have been reported to show altered effector T-cell subgroups; however, the relationship between T-cell subgroups and chromosome type remains unknown.Methods: In this study, we investigated immune abnormalities and karyotypes of Turner syndrome. Using flowcytometry, we examined the T-cell subsets of 20 women with Turner syndrome and 23 women serving as controls (without recurrent pregnancy loss), between July 2021 and June 2022. Background data of the women with Turner syndrome were also collected.Results: Significantly lower levels of helper T-cells 1 and 2 were observed in women with Turner syndrome than in the control group (4.5 ± 2.88 vs. 8.54 ± 4.45, p < 0.05, 0.56 ± 0.38 vs. 0.97 ± 0.48, p < 0.05, respectively). With respect to karyotypes, deletion of a specific region, pseudoautosomal region 2, which typically escapes X-inactivation, might influence regulatory T cells (Treg) levels as copy number of PAR2 and Treg rate were positively correlated (r = 0.76).Conclusion: Individuals with Turner syndrome showed an altered T-cell subset, which might be caused by the deletion of a specific part of the X chromosome, pseudoautosomal region 2. This finding suggests that women with Turner syndrome in a specific karyotype show altered T-cell subsets, and more cases are needed to determine whether these T-cell changes could influence pregnancy outcomes.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-11"},"PeriodicalIF":0.9,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144498479","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}

引用次数: 0

Erratum. 勘误表。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-05 DOI: 10.1159/000545707

引用次数: 0

First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations. 一种与Weiss-Kruszka综合征和先天性膈疝相关的新型ZNF462变异的首次报道：对潜在附加畸形的见解。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-02 DOI: 10.1159/000546167

Serap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper

{"title":"First Report of a Novel ZNF462 Variant Linked to Weiss-Kruszka Syndrome and Congenital Diaphragmatic Hernia: Insights into Potential Additional Malformations.","authors":"Serap Ketenci-İşlek, Gizem Ürel-Demir, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper","doi":"10.1159/000546167","DOIUrl":"10.1159/000546167","url":null,"abstract":"Introduction: Weiss-Kruszka syndrome is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the ZNF462, located at chromosome 9p31.2. Clinically, it is characterized by craniofacial dysmorphism, global developmental delay, intellectual disability, short stature, congenital anomalies of the heart and brain, and feeding difficulties. The phenotypic spectrum is notably heterogeneous, with variable expressivity and occasional incomplete penetrance.Case presentation: Herein, we report a novel de novo heterozygous frameshift variant in ZNF462, designated c.2924del; p.(Gln975ArgfsTer3) (NM_021224.6), identified in a pediatric patient.Conclusion: Importantly, our patient presented with a congenital diaphragmatic hernia - an anomaly not previously described in association with Weiss-Kruszka syndrome. To date, 48 cases have been reported in the literature. Our findings further broaden the phenotypic spectrum linked to ZNF462 variants and emphasize the need for continued clinical and molecular characterization. Through the detailed documentation of this unique case, we aimed to enhance the understanding of the clinical variability and potential comorbidities associated with this emerging syndrome.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":" ","pages":"1-6"},"PeriodicalIF":0.9,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12174855/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144334229","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}

引用次数: 0

Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome. 增强遗传洞察力：染色体微阵列增强了对鲁宾斯坦-泰比综合征遗传学的理解。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-11-19 DOI: 10.1159/000541941

Dilsu Dicle Erkan, Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper

{"title":"Enhancing Genetic Insight: Chromosomal Microarray Enhances Understanding of Genetics in Rubinstein-Taybi Syndrome.","authors":"Dilsu Dicle Erkan, Merve Soğukpınar, Gizem Ürel Demir, Gülen Eda Utine, Pelin Özlem Şimşek-Kiper","doi":"10.1159/000541941","DOIUrl":"10.1159/000541941","url":null,"abstract":"Introduction: Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive craniofacial features, growth deficiencies, and broad thumbs and halluces. Most diagnoses are made through sequence analysis of the CREBBP or EP300 genes. Here we focused on two cases diagnosed through chromosomal microarray analysis (CMA), highlighting the significance of genetic variations in RSTS.Case presentation: After detailed clinical examinations and genetic evaluations of 2 patients with suspected RSTS, CMA was conducted to identify copy number variations. CMA revealed a 128-kb deletion in the CREBBP gene in case 1 presenting with dysmorphic features and growth delays. Case 2, a 14-month-old girl with global developmental delay and similar dysmorphic features, was found to have a 1,467-kb deletion encompassing part of the EP300 gene.Conclusion: Our study underscores the importance of CMA as a critical diagnostic tool for RSTS, particularly in cases where sequence analysis fails to identify pathogenic variants. The identification of significant deletions in the CREBBP and EP300 genes through CMA not only confirms the diagnosis of RSTS but also expands our understanding of the genetic complexity of the syndrome. Since CMA is already included as part of the diagnostic evaluation for RSTS, these findings further emphasize its value in ensuring accurate diagnosis and improving the management of this rare condition.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"283-290"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235631","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}

引用次数: 0

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months. 12个月大男孩无眼、听觉异常的刀型发育不良。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-09-19 DOI: 10.1159/000541135

Abdulkerim Kolkıran, Tuğba Daşar, Ahmet Kablan, Pelin Özlem Şimşek-Kiper

{"title":"Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.","authors":"Abdulkerim Kolkıran, Tuğba Daşar, Ahmet Kablan, Pelin Özlem Şimşek-Kiper","doi":"10.1159/000541135","DOIUrl":"10.1159/000541135","url":null,"abstract":"Introduction: Kniest dysplasia is a rare skeletal disorder, characterized by mild dysmorphic features, cleft palate, short stature, short limbs, prominent joints, restricted joint mobility, hearing impairment, and ocular manifestations such as high-degree myopia, retinal detachment, and cataract. Typical radiological findings include platyspondyly, coronal clefts, and dumbbell-shaped long tubular bones.Case presentation: Herein, we report on an 8-month-old boy who was referred to the pediatric genetic department due to narrow thorax and short extremities. He had mild dysmorphic features, cleft palate, narrow thorax, short extremities, and short stature. On radiographies, platyspondyly, hemivertebra, and dumbbell-shaped long tubular bones were detected. Clinical and radiological findings were consistent with Kniest dysplasia. Clinical exome sequencing was performed and revealed a heterozygous, pathogenic c.905C>T (p.Ala302Val) variant in the COL2A1 gene, confirming the initial clinical diagnosis.Discussion: Kniest dysplasia is a very rare skeletal dysplasia, and an accurate clinical diagnosis is important to provide the best possible follow-up.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"247-251"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136564/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235633","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}

引用次数: 0

Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review. 由Prg4基因截断突变引起的喜树趾-关节病-髋内翻-心包炎综合征：病例系列和文献综述。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-11-13 DOI: 10.1159/000542596

Hatice Ağır, İsmihan Sunar, Mehmet Burak Mutlu

{"title":"Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome Caused by Truncating Mutations in the Prg4 Gene: Case Series and Literature Review.","authors":"Hatice Ağır, İsmihan Sunar, Mehmet Burak Mutlu","doi":"10.1159/000542596","DOIUrl":"10.1159/000542596","url":null,"abstract":"Introduction: Camptodactyly-arthropathy-coxa vara-pericarditis (CACP) syndrome is an autosomal recessive condition characterized by early-onset camptodactyly, noninflammatory arthropathy, coxa vara deformity, and, rarely, pericardial effusion. The disease gene has been assigned to human chromosome regions 1q25-q31, and truncating mutations have been identified in the proteoglycan-4 (PRG4) gene formerly known as megakaryocyte stimulating factor gene.Methods: A literature review was performed with the findings in patients in terms of CACP syndrome. Also, whole-exome sequencing was performed for all cases. Segregation analyses of the detected variants were performed according to the possibilities.Results: We present 3 Turkish patients with CACP syndrome mimicking juvenile idiopathic arthritis (JIA). All patients were exposed to biologic therapy due to recalcitrant JIA. We have detected two pathogenic PRG4 variants. Case 3 had a novel pathogenic PRG4 variant not reported for the CACP syndrome so far. These two variants cause premature truncation of the protein. A deletion was detected in case 1 in the homozygous state in the PRG4 gene (NM_005807.6: c.3848del, p.Gly1283GlufsTer6, chr1-186281360-G-). A previously described deletion was detected in case 2 and case 3 in the homozygous state in the PRG4 gene (NM_005807.6: c.1910_1911delCT, p.Pro637ArgfsTer9, chr1-186276761-CT).Conclusion: In the current study, we report three pathogenic PRG4 variants including a novel mutation. We consider that a detailed anamnesis, including kinship and meticulous physical examination of camptodactyly in the absence of inflammatory response, may reveal CACP syndrome masquerading as JIA. The PRG4 gene analysis presents the early diagnosis for patients and prenatal counseling and preimplantation genetic diagnosis for carrier families.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"223-234"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136572/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235627","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}

引用次数: 0

Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features. Shashi-Pena综合征的临床变异性：一种与过度生长和轻微神经发育特征相关的新型ASXL2变异。

IF 0.9 4区医学

Molecular Syndromology Pub Date : 2025-05-01 Epub Date: 2024-10-10 DOI: 10.1159/000541070

Chiara Minotti, Ludovico Graziani, Alessia Micalizzi, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Valentina Lanari, Bruno Dallapiccola, Giuseppe Novelli, Antonio Novelli, Maria Cristina Digilio

{"title":"Clinical Variability of Shashi-Pena Syndrome: A Novel ASXL2 Variant Associated with Overgrowth and Minor Neurodevelopmental Features.","authors":"Chiara Minotti, Ludovico Graziani, Alessia Micalizzi, Maria Lisa Dentici, Rossella Capolino, Lorenzo Sinibaldi, Valentina Lanari, Bruno Dallapiccola, Giuseppe Novelli, Antonio Novelli, Maria Cristina Digilio","doi":"10.1159/000541070","DOIUrl":"10.1159/000541070","url":null,"abstract":"Introduction: Shashi-Pena syndrome (SHAPNS) is a rare congenital disorder characterized by macrocephaly, delayed psychomotor development with intellectual disability, hypotonia, seizures, episodic hypoglycemia, distinct facial features, and glabellar nevus flammeus, caused by heterozygous variants of the ASXL2 gene.Case presentation: We report on a 15-year-old patient in care at our hospital since the age of 4 years presenting with minor neurodevelopmental problems, marked postnatal overgrowth without advanced bone age, and dental anomalies.Conclusion: Patients described in the literature with SHAPNS are reported indicating a broad spectrum of clinical manifestations. The present patient manifests an atypical presentation of SHAPNS due to a novel heterozygous ASXL2 variant. This study supports the inclusion of SHAPNS in overgrowth disorders with macrocephaly, suggesting the analysis of the ASXL2 gene even in suspected subjects with normal bone age and confirms dental anomalies as a clinical feature of this syndrome. SHAPNS could be inferred even in the absence of developmental delay or epilepsy.","PeriodicalId":48566,"journal":{"name":"Molecular Syndromology","volume":"16 3","pages":"252-258"},"PeriodicalIF":0.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12136562/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144235628","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}

引用次数: 0