Novel Mutations in the MKKS, BBS7, and ALMS1 Genes in Iranian Children with Clinically Suspected Bardet–Biedl Syndrome by Roghayeh Dehghan, Mahdiyeh Behnam, Mansoor Salehi, Roya Kelishadi

“…In conclusion, our results not only expand the spectrum of mutations in BBS and ALMS1 genes but also accentuate the importance of genetic testing for differentiating BBS from Alström syndrome.…”
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Hereditary colorectal cancer: genetics and screening diagnostics by O. I. Kit, D. I. Vodolazhsky, Yu. A. Gevorkyan, N. V. Soldatkina, F. N. Grechkin, M. A. Kozhushko, I. Yu. Yefimova

“…To present the data on main forms of hereditary colorectal cancer (CRC) and to discuss issues of its diagnostics, genetic testing and patient management. Summary. CRC is one of the most widespread oncologic diseases and takes the leading positions for morbidity and mortality in the pattern of neoplastic diseases in Russia. …”
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Novel SMAD3 Mutation in a Patient with Hypoplastic Left Heart Syndrome with Significant Aortic Aneurysm by Kristi K. Fitzgerald, Abdul Majeed Bhat, Katrina Conard, James Hyland, Christian Pizarro

“…This case highlights the importance of genetic testing for known causes of aneurysm in patients with congenital heart disease who develop aneurysmal disease as it may significantly impact the management of those patients and their family members.…”
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It Is All in the Genes: A Story of Unexpected Survival in a 67-Year-Old Male with Metastatic Pancreatic Cancer by Patsy W. P. Lee, Scott W. Strum, Elena Tsvetkova

“…His survival far exceeded the median overall survival metrics. Genetic testing revealed a pathogenic heterozygous germline BRCA2 6643delT p.…”
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Simultaneous Bilateral Spontaneous Pneumothorax Revealed Birt-Hogg-Dubè Syndrome by Alessandro Tamburrini, Francesco Sellitri, Federico Tacconi, Francesco Brancati, Tommaso Claudio Mineo

“…In this case, we firstly report the concurrence of these rare conditions, as a patient presenting a simultaneous bilateral spontaneous pneumothorax was diagnosed with Birt-Hogg-Dubè syndrome based on the typical radiological findings and genetic testing of the folliculin gene located on chromosome 17.…”
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Autoinflammatory Reaction in Dogs Treated for Cancer via G6PD Inhibition by Jonathan W. Nyce

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A De Novo Missense MYLK Variant Leading to Nonsyndromic Thoracic Aortic Aneurysm and Dissection Identified by Segregation Analysis by Daigo Nishijo, Hiroki Yagi, Nana Akiyama, Norifumi Takeda, Masahiko Ando, Haruo Yamauchi, Norihiko Takeda, Issei Komuro

“…There was no family history of aortic diseases in the patient nor any specific clinical features suggestive of connective tissue diseases, such as Marfan syndrome. Genetic testing identified candidate causative variants in two different genes: MYLK (c.4819G > A, p.…”
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Loeys-Dietz syndrome by Bogumiła Wójcik-Niklewska, Erita Filipek

“…A 6-year-old boy with Loeys-Dietz syndrome, confirmed by molecular genetic testing, presented with high myopia, subluxated lenses, dysmorphic features, and disorders of the osteoarticular and cardiovascular systems. …”
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Two Cases of Oculofaciocardiodental (OFCD) Syndrome due to X-Linked BCOR Mutations Presenting with Infantile Hemangiomas: Phenotypic Overlap with PHACE Syndrome by T. M. Morgan, J. M. Colazo, L. Duncan, R. Hamid, K. M. Joos

“…Ophthalmological findings were consistent with oculofaciocardiodental (OFCD) syndrome. Upon genetic testing, these two females were determined to have X-linked BCOR mutations confirming OFCD syndrome diagnoses. …”
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Colonic Interposition in a Woman with Attenuated Familial Adenomatous Polyposis: Does the Location of the Colon Affect Polyp Formation? by Melanie D Beaton, Brian Taylor, David Driman, Peter Ainsworth, Paul C Adams

“…The present paper describes a case of a woman diagnosed with colorectal cancer at 34 years of age and subsequently found to have AFAP by genetic testing. During infancy, the patient underwent surgical correction of esophageal atresia with colonic interposition. …”
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Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln) by Nivedita U. Jerath, Tiffany Grider, Michael E. Shy

“…Electrodiagnostic testing revealed an axonal sensorimotor polyneuropathy. Genetic testing for HSP in 2003 was negative; repeat testing in 2013 revealed a mutation in KIF5A (c.611G>A;p.Arg204Gln). …”
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Genotype-phenotype insights of pediatric dilated cardiomyopathy by Ying Dai, Yan Wang, Youfei Fan, Bo Han

“…Clarifying the genotype-phenotype relationship can improve diagnostic accuracy, enhance prognosis, and guide follow-up treatment for genotype-positive and phenotype-negative patients identified through genetic testing, providing new insights for precision medicine. …”
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Hereditary neuropathy with liability to pressure palsies: a case series report by S. Naudžiūnaitė, R. Bunevičiūtė, B. Burnytė

“…This study highlights the diversity of the clinical course of HNPP and the importance of early diagnosis including electrophysiological studies and genetic testing of copy number variation at 17p12 locus, which can prevent clinical manifestations of the disease and/or complications. …”
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Attenuation of Autoimmune Phenomena in a Patient with Autoimmune Polyglandular Syndrome Type 1 by Jill D. Jacobson, Julia R. Broussard, Courtney Marsh, Brandon Newell

“…Howell-Jolly bodies consistent with autoimmune hyposplenism were also noted. Genetic testing revealed compound heterozygosity for 2 disease-associated variants in the autoimmune regulator (AIRE) gene. …”
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Werner Syndrome Caused by Homozygous Frameshift Variant c.1578del in WRN by Jovita Patricija Druta, Gunda Petraitytė, Aušra Sasnauskienė, Eglė Preikšaitienė

“…The patient was initially diagnosed with secondary small fiber sensory polyneuropathy and myotonia, but further genetic testing revealed the homozygous pathogenic variant c.1578del in the WRN gene associated with Werner syndrome. …”
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Nonsyndromic Generalized Radiculomegaly of Permanent Dentition: A Rare Case Report by Mohammed Alhussain, Naif Almosa, Hourya Alnofaie

“…Due to lack of evidence of physical signs and symptoms consistent with OFCD syndrome, genetic testing was not performed. Conclusion. Dentists need to be informed of the clinical and radiographic features of different dental anomalies, especially radiculomegaly, as it is considered one of the significant features of OFCD syndrome. …”
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Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation by Ameer Kakaje, Ammar Fadel, Osama Hosam Aldeen, Othman Hamdan

“…Doppler ultrasonography found decreased cavernous blood flow, and warm 0.9% saline lavage of the cavernosa was indicated and successfully treated the priapism. Genetic testing for the homozygous MTHFR (C677T) mutation was later confirmed, and warfarin was indicated. …”
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Advancements in Cardiac Amyloidosis Treatment by Tarek Ziad Arabi, Abdullah Shaik, Ahmed El-Shaer, Omar Al Tamimi, Eman Nayaz Ahmed, Mohamad S. Alabdaljabar, Ahmad Safdar, Ali Mushtaq

“…However, barriers such as high costs, limited availability of genetic testing, and inadequate multidisciplinary care continue to impede comprehensive management. …”
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Female urethral diverticular carcinoma: a case report and review of the literature by Dan Li, Fan Hua Meng, Xu Yang

“…For patients with distant metastasis, a combination of surgery, chemotherapy, and radiotherapy may be considered.Genetic testing and targeted immunotherapy offer new approaches for future treatment.…”
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Agr-typing of methicillin-susceptible Staphylococcus aureus (MSSA) isolated from non-human primates by V. A. Kalashnikova

“…The present study is devoted to molecular genetic testing of S. aureus isolated from different biological samples taken from monkeys and is based on typing of agr polymorphic locus which acts as a regulator of pathogenic gene expression. …”
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