Rheumatoid-like hand deformities and aortic valve disease in a 13-year-old girl with homozygous familial hypercholesterolemia: a case report by Anjuman Ara Rahman, Abhijit Datta, Kamal Uddin Ahmed, Anindita Das Barshan, Mohammad Jahid Hasan

“…Conclusion This case underscores the significance of identifying important physical signs in the diagnosis and management of familial hypercholesterolemia, particularly in settings where genetic testing may be limited. Moreover, the unique coexistence of familial hypercholesterolemia with hand joint deformity and aortic valvular heart disease serves as a clinical clue that can facilitate diagnosis and appropriate therapeutic interventions. …”
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Polygenic diseases by Sergey Dolomatov, Walery Zukow, Anna Zhukova, Svetlana Smirnova

“…Understanding these interactions enables more effective personalized approaches to prevention, diagnosis, and treatment. Integration of genetic testing into clinical practice offers opportunities for improved patient outcomes through targeted interventions and personalized medicine strategies. …”
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A novel mutation, Ile344Asn, in microsomal triglyceride transfer protein abolishes binding to protein disulfide isomerase by Swati Valmiki, Cindy Bredefeld, M. Mahmood Hussain

“…In this study, we report a proband with abetalipoproteinemia who was monitored annually for 10 years in her third decade and had very low plasma lipids and undetectable apoB-containing lipoproteins. Genetic testing revealed biallelic variants in the MTTP gene. …”
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A Case of Von Hippel–Lindau Disease with Bilateral Pheochromocytoma and Ectopic Hypersecretion of Intact Parathyroid Hormone in an Adolescent Girl by Rym Belaid, Ibtissem Oueslati, Melika Chihaoui, Meriem Yazidi, Wafa Grira, Fatma Chaker

“…MIBG scintigraphy exhibited a high accumulation of the tracer in both adrenal tumors. Genetic testing revealed a mutation of the VHL gene. The patient underwent a bilateral adrenalectomy. …”
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Report of a Novel Mutation in MLH1 Gene in a Hispanic Family from Puerto Rico Fulfilling Classic Amsterdam Criteria for Lynch Syndrome by Juan M. Marqués-Lespier, Yaritza Diaz-Algorri, Maria Gonzalez-Pons, Marcia Cruz-Correa

“…The detection of this novel mutation in MLH1 further emphasizes the need for genetic testing in at-risk patients for hereditary CRC from various ethnic and racial backgrounds.…”
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Retinitis Pigmentosa and Bilateral Idiopathic Demyelinating Optic Neuritis in a 6-Year-Old Boy with OFD1 Gene Mutation by Xun Wang, Cong Zheng, Wen Liu, Hui Yang

“…To our knowledge, this is the first report of a patient with RP and ON, as well as genetic testing results. Nevertheless, the pathogenicity of the variant needs further confirmation.…”
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Chronic Granulomatous Disease Presenting as Aseptic Ascites in a 2-Year-Old Child by J. F. Moreau, John A. Ozolek, P. Ling Lin, Todd D. Green, Elaine A. Cassidy, Veena L. Venkat, Andrew R. Buchert

“…Cultures were negative for infection throughout his course, and CGD was suspected after identification of granulomas on peritoneal biopsy. Genetic testing revealed a novel mutation in the CYBB gene underlying his condition. …”
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Case Study: Analyzing CFTR Mutations and SNPs in Pulmonary Fibrosis Patients with Unclear Symptoms by Sahar Yousaf, null Sumaira, Iqbal Bano, Atia Rehman, Samra Kousar, Muhammad Usman Ghani, Mariam Shahid

“…Despite negative sweat chloride tests, the patient was analysed for potential candidate SNPs and was also tested for potential CFTR mutations to rule out CF, genetic analysis confirmed the diagnosis. Genetic testing plays a crucial role in diagnosing cystic fibrosis, even when traditional tests are inconclusive. …”
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Frontotemporal Dementia, Manifested as Schizophrenia, with Decreased Heterochromatin on Chromosome 1 by Philippos Gourzis, Maria Skokou, Panagiotis Polychronopoulos, Evanthia Soubasi, Irene-Eva Triantaphyllidou, Christos Aravidis, Antonia-Ioanna Sarela, Zoe Kosmaidou

“…Frontotemporal dementia, and particularly early-onset cases, can be often misdiagnosed as schizophrenia, with negative impact on case management. Genetic testing could be an aid to the correct diagnosis, which is crucial for optimal patient care.…”
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A Biopsychosocial Overview of Speech Disorders: Neuroanatomical, Genetic, and Environmental Insights by Diya Jaishankar, Tanvi Raghuram, Bhuvanesh Kumar Raju, Divyanka Swarna, Shriya Parekh, Narendra Chirmule, Vikramsingh Gujar

“…Future directions point toward leveraging genetic testing, digital technologies, and personalized therapies, alongside addressing the psychosocial dimensions, to improve outcomes for individuals with speech disorders. …”
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Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age by Rumi Katashima, Mari Matsumoto, Yuka Watanabe, Maki Moritani, Ichiro Yokota

“…Common reasons for misdiagnosis are related to limitations in genetic testing. A precise molecular diagnosis is essential for the optimal treatment of patients and allows for early diagnosis of their asymptomatic family members. …”
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A case report of fatal familial insomnia with cerebrospinal fluid leukocytosis during the COVID-19 epidemic and review of the literature by Zheng Wang, Yueqi Huang, Shuqi Wang, Jiefang Chen, Gesang Meiduo, Man Jin, Xiaoying Zhang

“…And precise diagnosis relies on genetic testing.…”
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Case report: Cerebrotendinous Xanthomatosis masquerading as adult ADHD in psychiatric practice by Jongtae Kim, Yun Jeong Hong, Si Baek Lee, Seong Hoon Kim, Myung Ah Lee, Eunbuel Ko, Jeong Wook Park

“…Comprehensive neurological assessments, including neuroimaging and genetic testing, ultimately diagnosed him with CTX. Treatment with chenodeoxycholic acid (CDCA) resulted in stabilization of cognitive function, although improvement in gait disturbances and tremors remained minimal.ConclusionThis case demonstrates that CTX can masquerade as adult ADHD, emphasizing the necessity for thorough assessments in atypical ADHD presentations. …”
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Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant by Zhiqin Du, Xiao Ma, Xiao Ma, Xiao Ma, Jianhua Li, Fang Yang, Yangfan Guo, Yangfan Guo

“…Our finding emphasizes the importance of considering TSC in individuals presenting with these cardiac features, as well reinforce the critical role of molecular genetic testing in confirming the diagnosis of TSC.…”
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Hemophilia A Haplotypes in Southwestern Iran by Bizhen Keikhaei Dehdezi, Ali Khodadadi, Arta Farhadi Kia, Faezeh Abbasi, Saeed Bitraf, Roya Salehi Kahyesh

“…Conclusion: Identifying genetic mutations in hemophilia disease helps promote the clinical care available for these patients. Genetic testing is also indicated for carrier identification and prenatal diagnosis.…”
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Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review by Jun Kunizaki, Yuko Yoto, Yoshinobu Nagaoka, Akira Ishii, Tomoe Kazama, Kohei Wagatsuma, Noriyuki Akutsu, Aki Ishikawa, Toju Tanaka, Shintaro Sugita, Takeshi Tsugawa, Hiroshi Nakase

“…Although she had no clinical symptoms suggestive of Wilson’s disease, such as Kayser–Fleischer rings, laboratory data showed decreased serum copper and ceruloplasmin levels and increased urinary copper excretion. Genetic testing showed pathogenic variants in ATP7B allele 1: c.2004_2006delGAT (p. …”
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Whole-Exome Sequencing Identifies One De Novo Variant in the FGD6 Gene in a Thai Family with Autism Spectrum Disorder by Chuphong Thongnak, Areerat Hnoonual, Duangkamol Tangviriyapaiboon, Suchaya Silvilairat, Apichaya Puangpetch, Ekawat Pasomsub, Wasun Chantratita, Pornprot Limprasert, Chonlaphat Sukasem

“…Autism spectrum disorder (ASD) has a strong genetic basis, although the genetics of autism is complex and it is unclear. Genetic testing such as microarray or sequencing was widely used to identify autism markers, but they are unsuccessful in several cases. …”
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Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC) by Yi-Lei Lu, Meng-wei Liu, Jie-Yuan Jin, Ding Pan

“…This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC. …”
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The Unforeseen Diagnosis: Hyperparathyroidism-Jaw Tumour Syndrome Case Report and Review of the Literature by Maxim Barnett, Farhan Ahmed, Radu Mihai, Asha Rattan, Malik Asif Humayun

“…Medical professionals must avoid diagnostic overshadowing and display a low threshold for genetic testing in younger patients with primary hyperparathyroidism. …”
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Clinical and Genetic Characteristics of ABCC8 Nonneonatal Diabetes Mellitus: A Systematic Review by Meng Li, Xueyao Han, Linong Ji

“…They had a relatively high risk of microvascular complications and low prevalence of nervous disease, which is different from ABCC8-NDM. Conclusions. Genetic testing is essential for proper diagnosis and appropriate treatment for patients with ABCC8-NNDM. …”
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