Molecular Syndromology分子综合征学
Molecular Syndromology(英文缩写 MOL SYNDROMOL),ISSN 1661-8769,eISSN 1661-8777,中文译名:分子综合征学 是一本学术期刊。本页汇总该期刊的最新影响因子、分区信息以及最新收录于 PubMed 的文献,帮助您快速了解期刊全貌。
发文量统计区间：2025-10-01 至 2026-09-30，按本站收录文献的发表日期统计。
期刊介绍
历年影响因子趋势
| JCR 数据年份 | 影响因子 | JCR 分区 |
|---|---|---|
| 2021 | 1.494 | Q4 |
| 2022 | 1.100 | Q4 |
| 2023 | 0.900 | Q4 |
| 2024 | 0.900 | Q4 |
| 2025 | 0.800 | Q4 |
Molecular Syndromology 最新收录文献
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2. Highlighting the Impact of Structural Genome Variants in Medical Genetics.
PMID:日期:2026-07-18该文献暂无摘要。
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3. Comprehensive Evaluation of Clinical, Developmental, Genetic, and Reproductive Characteristics of 133 Patients with Klinefelter Syndrome.
PMID:日期:2026-07-16Klinefelter syndrome, the most common sex chromosome aneuploidy and a major genetic cause of male infertility, is also associated with systemic comorbidities, congenital anomalies, neurodevelopmental impairments, dysmorphic features, and an increased risk of certain malignancies. While the classical form is 47,XXY, mosaicism and higher-grade sex chromosome aneuploidies are also observed. This study aimed to evaluate the clinical and genetic characteristics of patients diagnosed with Klinefelter syndrome over a 25-year period at a single tertiary center and to compare findings across different karyotype groups. A total of 133 patients diagnosed with Klinefelter syndrome between January 2000 and September 2025 were retrospectively reviewed. Patients were categorized into three groups: 47,XXY; mosaic karyotypes; and higher-grade sex chromosome aneuploidies. Demographic, clinical, and reproductive characteristics were analyzed, and intergroup statistical comparisons were performed. The majority of patients had a 47,XXY karyotype (87.2%), followed by mosaic forms (6.8%) and higher-grade sex chromosome aneuploidies (6%). Infertility was the most common presenting complaint (62.4%). The predominant clinical findings were hypoplastic or atrophic testes (68.3%), tall stature (15.8%), and gynecomastia (15.8%). Patients with higher-grade sex chromosome aneuploidies were diagnosed at younger ages and exhibited significantly higher rates of congenital anomalies, dysmorphic features, and neurodevelopmental impairment compared with those with the 47,XXY karyotype. Because most individuals with Klinefelter syndrome are diagnosed in adulthood following infertility evaluation and often display subtle manifestations in childhood, early recognition is essential. Increasing awareness of Klinefelter syndrome is crucial to ensure timely detection and management of associated comorbidities, particularly endocrine disorders.
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4. {"_":"A Missense Variant with a Coexisting 15q25.2-q25.3 Deletion: A Dual Molecular Diagnosis Case Report.","i":["HECW2"]}
PMID:日期:2026-07-13Dual molecular diagnoses are increasingly recognized with expanded genomic testing, and may result in blended phenotypes when two independent pathogenic findings contribute to the clinical presentation. A 3-year-old female patient presented with seizures beginning at 8 months of age (generalized tonic-clonic), severe global developmental delay/intellectual disability, generalized hypotonia, absent meaningful speech, and microcephaly (head circumference 44.1 cm, <3rd percentile). Craniofacial features included midface retrusion/hypoplasia, thick eyebrows, bilateral epicanthal folds, upslanting palpebral fissures, large ears, a wide mouth, a full lower lip, and a low posterior hairline. Electroencephalography showed age-inappropriate background activity with frequent high-amplitude bifrontal spike-slow wave discharges that often generalized and occasionally displayed a hypsarrhythmia-like pattern. Cranial magnetic resonance imaging was reported as showing a mega cisterna magna variation. Exome sequencing (ES) identified a heterozygous missense variant in NM_001348768.2:c.4485G>T p.(Arg1495Ser). Copy-number variant (CNV) analysis of the ES data detected an approximately 2.6 megabase (Mb) heterozygous deletion on chromosome 15, subsequently confirmed by chromosomal microarray analysis as a 2.79 Mb 15q25.2-q25.3 deletion and classified as pathogenic according to American College of Medical Genetics and Genomics/Clinical Genome Resource (ACMG/ClinGen) technical standards. Both alterations were de novo. This case represents a rare dual molecular diagnosis involving a missense variant and a 15q25.2-q25.3 deletion, supporting a potential blended phenotype and expanding the molecular and phenotypic spectrum of -related neurodevelopmental disorder.
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5. {"_":"-Related Neurodevelopmental Disorder: A Novel Homozygous Loss-of-Function Variant with an Unusual Skeletal Phenotype - A Case Report.","i":["THUMPD1"]}
PMID:日期:2026-07-10Genes involved in tRNA modification are critical contributors to a broad range of human neurodevelopmental disorders, reflecting the essential role of RNA modifications in brain development and function. The gene plays a key role in tRNA modification, and biallelic loss-of-function variants in this gene are known to cause Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies (NEDSOA), an autosomal-recessive condition. We report two sisters harboring a novel homozygous frameshift variant in (NM_017736.5):c.311del;p.(Gly104ValfsTer9), who presented with global developmental delay, severe speech impairment, and ocular anomalies. One affected individual also exhibited severe unilateral skeletal abnormalities on the left hand, including aplasia of the middle and distal phalanges of the fourth finger and the middle phalanx of the fifth finger. To our knowledge, this skeletal feature has not previously been reported in a patient with -related neurodevelopmental disorder. Although this skeletal anomaly contributes to the clinical description of the present family, the presence of the finding in only 1 of the 2 affected siblings, both of whom carry the same homozygous variant, limits the strength of the genotype-phenotype association. Therefore, a definitive causal relationship between the variant and the skeletal phenotype cannot be established, and confirmation in additional individuals will be required.
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6. Beyond the Spectrum: A Case Report of Phelan-McDermid Syndrome and the Atypical Teratoid/Rhabdoid Tumor Co-Occurrence.
PMID:日期:2026-07-06Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder most often caused by terminal 22q13.3 deletions involving . Although primarily associated with developmental delay, hypotonia, and autism spectrum disorder-like features, rare reports have described atypical teratoid/rhabdoid tumor (AT/RT) in PMS, suggesting a potential oncogenic link. We report the clinical, molecular, and treatment features of a child with PMS and AT/RT and review previously published cases. The proband presented with global developmental delay, absent speech, hypotonia, joint laxity, and characteristic dysmorphic features. Chromosomal microarray revealed a ∼2.26 Mb terminal deletion at 22q13.32q13.33, encompassing 31 OMIM-listed genes including . At 6 months of age, he was diagnosed with AT/RT and treated with multimodal chemotherapy and craniospinal radiotherapy, achieving remission. Literature review identified additional PMS patients with AT/RT, supporting a role for 22q instability in tumorigenesis. This case highlights a rare but clinically significant association between PMS and AT/RT. Awareness of this potential link and careful radiotherapy planning are warranted to optimize outcomes in affected individuals.
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7. {"_":"Early Pubertal Progression and Increased 11-Oxygenated Androgens in a Girl with Wiedemann-Steiner Syndrome and a Variant: A Case Report.","i":["KMT2A"]}
PMID:日期:2026-07-02The factors that determine the tempo of pubertal progression are not fully understood. Although a few patients with variants were noted to have precocious puberty, in addition to various clinical features of Wiedemann-Steiner syndrome (WSS), the hormonal data of these individuals were unreported. Recently, high blood levels of 11-ketotestosterone, a potent 11-oxygenated androgen, were observed in a girl with WSS. We encountered a Japanese girl who experienced menarche at 9 years and 4 months of age. She showed pubertal levels of LH and estradiol and advanced bone age and was treated with a gonadotropin-releasing hormone analog. She exhibited hirsutism, craniofacial features, and mild intellectual disability but no other clinical features of WSS. Exome sequencing identified a hitherto unreported de novo variant at the splice acceptor site of exon 5 (c.3335-1G>A). Her blood levels of 11-oxygenated androgens, androstenedione, and dehydroepiandrosterone were markedly elevated, while those of estrogen and testosterone were within normal ranges. The present case implies possible roles of KMT2A in the hypothalamic-pituitary-gonadal axis or in adrenal steroidogenesis. The results of this study, together with previous findings, imply that overproduction of 11-oxygenated androgens contributes to advanced bone age and hypertrichosis in patients with WSS. Our data merit further validation.
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8. Duodenal Duplication Cyst in Cardiofaciocutaneous Syndrome: A Possible Expansion of the Gastrointestinal Phenotype of RASopathies - A Case Report.
PMID:日期:2026-07-02Cardiofaciocutaneous (CFC) syndrome is a rare RASopathy caused predominantly by germline variants; functional gastrointestinal symptoms are common, but structural gastrointestinal malformations are exceptional. We report a 10-month-old male with a de novo (NM_004333.6):c.1914T>A, p.(Asp638Glu) pathogenic variant who presented neonatally with a duodenal duplication cyst causing partial pyloric obstruction and underwent surgical excision at 3.5 months. To our knowledge, no previous duodenal duplication cyst has been reported in CFC syndrome or in any other RASopathy in the indexed literature. RAS/MAPK signalling regulates foregut recanalisation, raising the possibility of a mechanistic link, although causality cannot be established from a single observation. This hypothesis-generating case may expand the reported gastrointestinal phenotype of RASopathies; structural imaging may be considered in CFC patients with obstructive vomiting disproportionate to expected functional feeding difficulties.
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9. {"_":"Blended Hereditary Neuropathy Phenotype Caused by Biallelic and Variants: A Case Report.","i":["PRX","SCN9A"]}
PMID:日期:2026-06-30Inherited neuropathies are genetically heterogeneous, and with the increasing use of next-generation sequencing, multilocus pathogenic variants are now being recognized more frequently, particularly in populations with high consanguinity. We report the first known coexistence of and -related disorders in the same patient. A 17-month-old girl presented with walking difficulties, profound insensitivity to pain, self-mutilation, finger tissue loss, and chronic ulcerations. Physical examination revealed dentition abnormality, distal phalanx loss, bilateral genu recurvatum, and reflex loss. Imaging revealed osteomyelitis and chronic fractures, while electrophysiology revealed severe demyelinating neuropathy. Genetic testing identified homozygous pathogenic variants in the NM_181882.3:c.1390C>T p.(Arg464Ter) and NM_002977.3:c.3143_3154delinsA p.(Ile1048LysfsTer13) genes, which were confirmed by Sanger sequencing. Coexisting autosomal recessive disorders can produce blended phenotypes beyond classical disease expectations. In populations where consanguineous marriages are common, multilocus pathogenic variants should be considered, and comprehensive genomic testing is recommended.
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10. A Novel Homozygous GALNT3 Deletion in Hyperphosphatemic Familial Tumoral Calcinosis Presenting with Subcutaneous Calcifications and Raynaud's Phenomenon in an Adult Patient: A Case Report.
PMID:日期:2026-06-30Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare autosomal recessive disorder caused by pathogenic variants in the , , or genes, leading to ectopic calcifications. It typically presents in childhood or adolescence with periarticular calcified masses; however, adult-onset cases are exceedingly rare. We report a 54-year-old woman with a 5-year history of inflammatory bone pain, Raynaud's phenomenon, and distal extremity calcifications. Laboratory evaluation revealed hyperphosphatemia, suppressed parathyroid hormone, elevated 1,25-dihydroxyvitamin D level, and increased tubular phosphate reabsorption, suggesting deficiency or resistance. Genetic analysis identified a novel homozygous deletion of exons 8 and 9 in . This variant was classified as likely pathogenic per ACMG criteria. The patient was treated with calcium-free phosphate binders, corticosteroids, NSAIDs, and dietary phosphate restriction, resulting in partial symptomatic improvement. This case represents one of the oldest patients with a genetically confirmed HFTC diagnosis and expands its known phenotypic spectrum. Multidisciplinary evaluation, including genetic counseling and screening of family members, is essential. Awareness of atypical presentations and consideration of genetic testing in patients with unexplained soft-tissue calcifications can facilitate timely diagnosis and management.