Novel MLH1 nonsense variant in a patient with suspected Lynch syndrome by Nobue Takaiso, Issei Imoto, Toshihiko Matsumoto, Akiyo Yoshimura

“…The characteristics of the case met the revised Bethesda guidelines, and the tumors demonstrated a high frequency of microsatellite instability. Genetic testing for mismatch repair genes (indicative of Lynch syndrome) revealed a novel heterozygous germline pathogenic variant, NM_000249.4:c.856A>T/NP_000240.1:p.…”
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Exome sequencing in Nigerian children with early‐onset epilepsy syndromes by Ibitayo Abigail Ademuwagun, Yagoub Adam, Solomon Oladapo Rotimi, Steffen Syrbe, Maximilian Radtke, Julia Hentschel, Johannes R. Lemke, Ezekiel Adebiyi

“…Pathogenic variants were identified in five genes amongst 6 of 22 patients, underscoring the potential of genetic testing to enhance epilepsy management in developing nations like Nigeria.…”
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Identification of Interactive Genetic Loci Linked to Insulin Resistance in Metabolic Syndrome—An Update by Imadeldin Elfaki, Rashid Mir, Mohamed E. Elnageeb, Abdullah Hamadi, Zeyad M. Alharbi, Ruqaiah I. Bedaiwi, Jamsheed Javid, Tariq Alrasheed, Dalal Alatawi, Basmah M. Alrohaf, Mohammed K. Abunab, Turki Ahmed Muqri

“…We also discuss the genetic loci associated with them. Genetic testing is invaluable in the identification and stratification of susceptible populations and/or individuals. …”
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Adult hypophosphatasia presenting with recurrent acute joint pain by Hayao Yoshida, Takaaki Murakami, Atsubumi Ogawa, Takashi Sunouchi, Naoko Hidaka, Nobuaki Ito, Hiromi Murakami, Hidenori Kawasaki, Tomoyuki Akiyama, Katsumi Nakajima, Daisuke Yabe, Taizo Yamamoto

“…Additional genetic testing of his parents showed a heterozygous c.1559del variant in his father and a heterozygous c.979T>C variant in his mother. …”
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A Novel CACNA1A Nonsense Variant [c.4054C>T (p.Arg1352⁎)] Causing Episodic Ataxia Type 2 by Sean Lance, Stuart Mossman, Gemma Poke

“…However, a large proportion of patients with EA2 have negative genetic testing. We present a patient with a typical history of EA2 who had a novel variant in the CACNA1A gene not previously described. …”
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Pleuropulmonary Blastoma (PPB) in Child with DICER1 Mutation: The First Case Report in the State of Qatar by Sara G. Hamad, Amal Al-Naimi, Mutasim Abu-Hasan

“…The case highlights the need to consider PPB in the differential diagnosis of cystic lung lesions in children and the need for further radiological imaging (i.e., CT scan), genetic testing, and/or excisional biopsy to confirm the diagnosis.…”
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A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome by Pamela Rodríguez, Karla Asturias

“…Even though molecular genetic testing is highly recommended to confirm the diagnosis, high costs and unavailability in some settings are significant setbacks, and clinical criteria could be used. …”
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Changes in the organ of vision in neurofibromatosis type 1 in the developmental age by Mirosława Grałek, Katarzyna Piasecka, Katarzyna Wasyliszyn-Sieroszewska, Anna Niwald

“…Diagnostics relies on clinical and imaging evaluations, as well as genetic testing. There is no causal treatment. The therapeutic management depends on each patient’s specific needs. …”
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Dysphagia and Neck Swelling in a Case of Undiagnosed Lhermitte-Duclos Disease and Cowden Syndrome by Zishuo Ian Hu, Lev Bangiyev, Roberta J. Seidman, Jules A. Cohen

“…Additional imaging subsequently revealed the presence of thyroid nodules and bilateral breast cancers. Genetic testing later confirmed the diagnosis of Cowden syndrome. …”
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Enhanced growth of short stature in Ellis-van Creveld syndrome: A case report of a Saudi child by Essam Al Ageeli

“…Diagnosis was confirmed through genetic testing, revealing a nonsense homozygous mutation in the EVC2 gene. …”
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Delayed Diagnosis of McCune–Albright Syndrome by Bereket Fantahun, Seblewongel Desta

“…From the triads, two of the findings are enough to make the diagnosis, but genetic testing can be done if it is available. Case Presentation. …”
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Ataxia and Seizures despite Phenytoin: A Case Report Highlighting the Importance of TDM and Genetic Influences by Rachel Manoj, Arpita Meher, Jefry Winner G.

“…Laboratory tests and imaging were inconclusive, leading to a therapeutic drug monitoring (TDM) consultation, which revealed elevated phenytoin levels. Genetic testing for CYP2C9 polymorphisms was not feasible but noted as significant, especially in populations with higher prevalence. …”
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Decoding the Genetics of Recurrent Molar Pregnancy by Sumita Mehta, Sunita Bijarnia Mahay, Abhishek Satapathy, Kiran Arora

“…We report the case of a 31-year-old woman with previous three molar pregnancies who on genetic testing was found to be compound heterozygous for pathogenic variants in the NLRP7 gene (c.2738A>G and c.2078G>C). …”
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Genomic analysis of the SMN1 gene region in patients with clinically diagnosed spinal muscular atrophy: a retrospective observational study by Tamaki Kato, Mamoru Yokomura, Yutaka Osawa, Kensuke Matsuo, Yuji Kubo, Taihei Homma, Kayoko Saito

“…Most patients with SMA have a mutation in the survival motor neuron 1 (SMN1) gene on chromosome 5q. With current genetic testing, SMN1 copy number is determined; a diagnosis is reached when the copy number is zero. …”
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Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience by Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Michela Erlati, Gemma Sartori, Giulia Tronconi, Renzo Mignani, Federico Pieruzzi, Paolo Colomba, Laura Scichilone, Michele Andreucci, Concetto Sessa, Giovanni Duro

“…Ongoing outpatients attending Italian nephrology clinics were screened by assay of plasma α-galactosidase A (α-Gal A) activity. Genetic testing was also performed in all females and males with low α-Gal A activity. …”
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Korean patients with hereditary cancer: a prospective multicentre cohort study protocol exploring psychosocial and health outcomes by Boyoung Park, Sun-young Kong, Dongju Won, Jong Eun Park, Jun-Kyu Kim, Mi-Ae Jang, Jung-Sook Ha, Kyoung-Bo Kim

“…Introduction Although genetic testing for hereditary cancers is increasing, data on health attitudes based on genetic pathogenicity are limited. …”
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Prenatal Diagnosis of Atrioventricular Block and QT Interval Prolongation by Fetal Magnetocardiography in a Fetus with Trisomy 18 and SCN5A R1193Q Variant by Lisheng Lin, Miho Takahashi-Igari, Yoshiaki Kato, Yoshihiro Nozaki, Mana Obata, Hiromi Hamada, Hitoshi Horigome

“…Advanced AVB and ventricular arrhythmias were confirmed after birth. Genetic testing of the baby revealed a SCN5A R1193Q variant, which we considered could account for the various arrhythmias in this case.…”
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Intellectual Disability and Blended Phenotypes: Insights from a Centre in North India by Inusha Panigrahi, Sudha Rao, Shalu Verma Kumar, Divya Kumari, Parminder Kaur

“…A confirmatory diagnosis is facilitated by genetic testing like chromosomal microarray and next generation sequencing. …”
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Peroneal Arteriovenous Fistula and Pseudoaneurysm: An Unusual Presentation by Kevin C. Ching, Kevin M. McCluskey, Abhay Srinivasan

“…Pathology revealed papillary endothelial hyperplasia consistent with an aneurysm and later genetic testing was consistent with Ehlers-Danlos syndrome Type IV. …”
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A Case Presentation of a Patient with Microsatellite Instability and BRAF Mutant Metastatic Colon Cancer and Bibliography Update by K. Thomopoulou, M. Tzardi, D. Mavroudis, I. Souglakos

“…Pathology report was consistent with poorly differentiated mucinous adenocarcinoma with signet ring cells; peritoneal lesions were confirmed histologically as metastatic. Genetic testing revealed the BRAFV600E mutation and mismatch repair deficiency (dMMR). …”
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