4q25 Microdeletion with Axenfeld-Rieger Syndrome and Developmental Delay by Yukino Kawanami, Tomoko Horinouchi, Naoya Morisada, Takeshi Kato, Kandai Nozu

“…In spite of the partial deletion of ANK2, the causative gene of long QT syndrome type 4, the electrocardiogram was normal. Genetic testing can lead to a correct diagnosis, and it may be effective in detecting complications.…”
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Novel Phenotype in Unbalanced 7;9 Translocation with Critical Incidental Finding by Julie Fischer, Luis Rohena

“…This case expands on the phenotype of this patient’s unbalanced 7;9 translocation as well as highlights the importance of secondary findings in genetic testing.…”
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Personalization of thiopurine therapy: Current recommendations and future perspectives by Urbančič Dunja, Pasha Flaka, Šmid Alenka, Mlinarič-Raščan Irena

“…In addition, the article takes a critical look at emerging research in the field of thiopurine pharmaco genomics featuring novel genetic markers and technological developments in genetic testing. Finally, the potential of integrated approaches that combine genetic, meta bolic, and clinical factors to further individualize thiopurine therapy is highlighted.…”
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Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His VCP Mutation by Nivedita U. Jerath

“…A 55-year-old woman was labeled as “normal” and “pain medication seeking” after an unrevealing work up of clinical, laboratory, electrodiagnostic, radiographic, pathologic, and genetic testing. She continued to present with chronic neck pain, and had variable features of scapuloperoneal atrophy, which was also seen in her family. …”
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Acute Aortic Dissection in Pregnancy in a Woman with Undiagnosed Marfan Syndrome by Mandana Master, Gavin Day

“…On later examination, our patient fulfilled the diagnostic criteria for phenotypic expression of Marfan syndrome. Genetic testing also confirmed that she has a mutation of the fibrillin (FBN 1) gene associated with the disease.…”
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A Case of Congenital Nephrotic Syndrome with Crescents Caused by a Novel Compound Heterozygous Pairing of NPHS1 Genetic Variants by Kyle N. Goodman, Pongpratch Puapatanakul, Kevin T. Barton, Mai He, Jeffrey H. Miner, Joseph P. Gaut

“…We present a child who developed severe nephrotic syndrome at two weeks of age and eventually required a bilateral nephrectomy. Genetic testing revealed compound heterozygous variants in NPHS1 including a known pathogenic variant and a missense variant of uncertain significance. …”
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Metastatic Thymic Mucoepidermoid Carcinoma: The Diagnostic Challenges and Role of CRTC1/MAML2 Translocation in Accurate Diagnosis and Treatment by Toshiaki Takahashi, Daniel Graham, Evan Wu

“…This case highlights the importance of genetic testing in cases of uncertain primary origins and in differentiating between morphologically similar tumors.…”
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The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics by Agnieszka Starzyk, Piotr Charzewski

“…While surgical techniques and postoperative care have advanced, challenges like complications persist. Advances in genetic testing and innovative therapies are reshaping the field, offering the potential for improved outcomes and personalized treatments. …”
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Simultaneous surgery for gastrostomy and laryngotracheal separation in a patient with Tay‒Sachs disease by Masaharu Moroto, Uda Daisuke, Tomoya Yodoi, Yoshihiro Nitta, Yohei Sugimoto, Tomohiro Chiyonobu, Hiroyuki Yamada, Kayo Ozaki, Taichi Nakatani, Norio Sakai

“…Abstract Genetic testing identified novel compound heterozygous missense variants in the HEXA gene (NM_00520.6: c.775A>C and NM_000520.6: c.508C>T) in a 16-month-old girl diagnosed with Tay‒Sachs disease. …”
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Identification of Novel Mutations in Spatacsin and Apolipoprotein B Genes in a Patient with Spastic Paraplegia and Hypobetalipoproteinemia by Leema Reddy Peddareddygari, Raji P. Grewal

“…Whole exome sequence analysis was performed and novel mutations were detected in both the SPG11 and the APOB genes. Genetic testing of the parents showed that both APOB variants were inherited from the father while the SPG11 variants were inherited one from each parent. …”
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Caffey Disease: Genetically Proven Case Report of 2-month-old Indian Infant by Vagta Ram, Kunal Kumar, Krishnan Rajeshwari, Deepak Kumar

“…This case report provides a detailed description of a 2-month-old male infant presenting with deformities of the hands and feet, along with swelling and restricted movement of the limbs. Genetic testing confirmed a mutation in the COLA1A gene, confirming the diagnosis of Caffey disease. …”
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Developing multifactorial dementia prediction models using clinical variables from cohorts in the US and Australia by Caitlin A. Finney, David A. Brown, Artur Shvetcov

“…Future research should examine the use of routine APOE genetic testing for dementia diagnostics. It should also focus on clearly unifying data across clinical cohorts.…”
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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis by F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers

“…Screening for complement deficiencies after IMD, followed by genetic testing, can be lifesaving and allows for genetic counselling. …”
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Nephronophthisis: A Genetically Diverse Ciliopathy by Roslyn J. Simms, Ann Marie Hynes, Lorraine Eley, John A. Sayer

“…Increasingly, molecular genetic testing is being utilised to diagnose NPHP and avoid the need for a renal biopsy. …”
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Invasive Carcinoma Ex-Pleomorphic Adenoma of the Lacrimal Gland with a Cystadenocarcinoma Component: A Case Report and Review of the Literature by Vamsee K. Neerukonda, Bryant Carruth, Maria Del Valle Estopinal

“…This case illustrates the importance of the histopathologic assessment including immunohistochemistry and genetic testing to narrow a differential diagnosis and potentially aid or guide therapy in the future. …”
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MPN/MDS OVERLAP SYNDROME ANTICIPATED BY A SEVERE BLEEDING DIATHESIS: HYPOTHESIS OF A PRE-EXISTING PLATELET DISORDER by Paola Ranalli, Stefano Baldoni, Daniela Bruno, Mauro Di Ianni

“…This case report underlines the importance of genetic testing in case of patient with documented platelet function disorder, including both mutations associated with inherited platelet disorders and germline mutations more strictly predisposing to Myeloid Neoplasms. …”
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MPO Expression of Background Neutrophils in MPO Negative Acute Promyelocytic Leukemia, An Easy Clue to Corroborate a Challenging Diagnosis: A Case Report and Review of Literature by Kritika Krishnamurthy, Jui Choudhuri, K. H. Ramesh, Yanhua Wang

“…The identification of MPO deficiency based on genetic testing would involve at the least a MPO gene scanning with NGS, followed by microarray to identify somatic uniparental disomy in heterozygotes. …”
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Diabetes Mellitus Secondary to Acute Pancreatitis in a Child with Wolf-Hirschhorn Syndrome by Asma Deeb

“…She had negative autoantibodies and no signs of insulin resistance and her monogenic diabetes genetic testing was negative. Microarray study using WHS probe confirmed deletion of 4p chromosome. …”
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Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review by Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD

“…The presence of leukoencephalopathy on brain MRI in patients with cachexia and neurological manifestations, should raise the suspicion for MNGIE and trigger further biochemical and genetic testing.…”
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes by Diana Mokhtari, Mohammad Jahanpanah, Nasim Jabbari, Hamed Azari, Sana Davarnia, Haleh Mokaber, Sara Arish, Rasol Molatefi, Vahid Abbasi, Behzad Davarnia

“…Therefore, comprehensive genetic testing is useful for identifying the genes responsible for ARCAs. …”
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