Molecular genetic basis of epidermolysis bullosa by Yu. Yu. Kotalevskaya, V. A. Stepanov

“…Establishing an accurate diagnosis depends on the correlation of clinical, genealogical and immunohistological data in combination with molecular genetic testing. In general, the study of clinical, genetic and ultrastructural changes in EB has significantly expanded the understanding of the natural history of the disease and supplemented the data on genotype-phenotype correlations, promotes the search and study of epigenetic and non-genetic disease modifier factors, and also allows developing approaches to radical treatment of the disease. …”
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Screening Children with a Family History of Central Congenital Hypoventilation Syndrome by Hina Emanuel, Kimberly Rennie, Kelly Macdonald, Aravind Yadav, Ricardo A. Mosquera

“…Two family members who reported to be “asymptomatic” were subsequently diagnosed with CCHS, based on genetic testing, obtained because of their family history. …”
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Clinical Efficacy Evaluation of Sirolimus in Congenital Hyperinsulinism by Somayyeh Hashemian, Reza Jafarzadeh Esfehani, Siroos Karimdadi, Rahim Vakili, Daniel Zamanfar, Amirhossein Sahebkar

“…Among those who had positive genetic testing, six families agreed to participate in this study. …”
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Glucose-6-phosphate dehydrogenase deficiency with coinherited Gaucher disease: A rare association by Nupur Parakh, Kusha Sharma, Sunita Sharma, Priti Chatterjee, Varinder Singh

“…Similar findings were seen on bone marrow trephine biopsy. Genetic testing revealed pathogenic variations in the GBA gene. …”
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Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes by Mohamed Abdelghafar Hussein, Heba ElTaher, Ranim Mahmoud, Donia Sobh, Mohammad Al-Haggar

“…The diagnosis was confirmed by molecular genetic testing using PCR amplification and sequencing of the acid alpha-glucosidase (GAA) gene. …”
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Clinical Features, Treatment, and Surveillance of Hyperparathyroidism-Jaw Tumor Syndrome: An Up-to-Date and Review of the Literature by Francesca Torresan, Maurizio Iacobone

“…Benign and malignant uterine involvement (including leiomyomas, endometrial hyperplasia, adenomyosis, multiple adenomyomatous polyps, and adenosarcomas) is the second most common clinical feature of the syndrome, affecting more than 50% of CDC73-carrier women. Genetic testing should be performed in all family members of affected individuals, in young patients undergoing surgery for primary hyperparathyroidism, or in presence of other associated tumors, allowing early diagnosis and prompt treatment with more tailored surgery. …”
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Solitary fibular metastasis from lung adenocarcinoma with gene mutation: a case report by Jiechen Chen, Ahmad Alkhatatbeh, Yinbing Lin, Xiaolin Lu, Bin Chen, Hongjiang Chen, Xiaohui Lu, Hansheng Wu, Jun Hu

“…Imaging revealed bony destruction of the right fibular head, and further investigations with chest CT, PET/C, pathologic biopsy and genetic testing identified a primary lung adenocarcinoma with EGFR exon 19 deletion mutation. …”
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Adult classic Bartter syndrome: a case report with 5-year follow-up and literature review by Le Jiang, Dongmei Li, Qiansha Guo, Yunfeng Li, Lei Zan, Rihan Ao

“…This case report describes the findings in a 20-year-old man who was admitted with hypokalemic paralysis, with clinical manifestations were similar to those of Gitelman syndrome (GS); however, the patient was later diagnosed to have BS Type 3 through genetic testing (NM_000085.4 (CLCNKB): c.1052G>T). …”
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Cognitive Impairments in LRRK2-Related Parkinson’s Disease: A Study in Chinese Individuals by Yifan Zheng, Zhong Pei, Yanmei Liu, Hongyan Zhou, Wenbiao Xian, Yingying Fang, Ling Chen, Qi Wu

“…They underwent a series of clinical evaluations and genetic testing for the LRRK2 S1647T polymorphism. Global intellect and five cognitive domains (language fluency, visuospatial function, attention, memory, and executive function) were compared between S1647T carriers and noncarriers. …”
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Selection of promising apple genotypes for columnar growth habit and scab resistance using diagnostic DNA markers by N. I. Savel’ev, A. S. Lyzhin, N. N. Savel’eva

“…The purpose of this study was molecular genetic testing of initial forms of apple and hybrid seedlings of apple to identify carriers of the target alleles of genes for monogenic scab resistance (Rvi6) and columnar growth habit (Co) and the clarification of the pattern of inheritance of the Co and Rvi6 genes in hybrid progeny populations. …”
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Lessons learned in migrating from one commercial genetics clinical decision-making tool to another: Assessment of data integrity and utilization by Calvin Le, Kevin Tatunay, Wayne Liu, Haibo Lu, Nicole-Ann Rodis, Thomas Nam, Mercy Y. Laurino, Marianne E. Dubard-Gault

“…Of the 36 charts that were discordant, 9 had incorrect genetic testing results entered, 19 had missing information, 5 charts contained data recorded on paper before 2017 (legacy data), and 3 had additional information transferred. …”
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Lynch Syndrome—Impact of the Type of Deficient Mismatch Repair Gene Mutation on Diagnosis, Clinical Presentation, Surveillance and Therapeutic Approaches by Tudor Razvan Grigorie, Gheorghe Potlog, Sorin Tiberiu Alexandrescu

“…In today’s world, with its continuing advancements in genetics, the identification of Lynch syndrome (LS) increasingly relies on sophisticated genetic testing techniques. Most guidelines recommend a tailored surveillance program, as well as personalized prophylactic and therapeutic approaches, according to the type of dMMR gene mutation. …”
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First Report of Diabetes Phenotype due to a Loss-of-Function ABCC8 Mutation Previously Known to Cause Congenital Hyperinsulinism by Theocharis Koufakis, Amalia Sertedaki, Elizabeth-Barbara Tatsi, Christina-Maria Trakatelli, Spyridon N. Karras, Eleni Manthou, Christina Kanaka-Gantenbein, Kalliopi Kotsa

“…In the present article, we describe a case of a young, male patient who presented with hyperglycemia in the absence of ketosis and following genetic testing; he proved to harbor the loss-of-function p.Arg1353His (c.4058G>A) mutation in the ABCC8 gene, inherited from his mother. …”
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Analysis of strawberry genetic collection (Fragaria L.) for Rca2 and Rpfl genes with molecular markers by I. V. Luk’yanchuk, A. S. Lyzhin, I. I. Kozlova

“…The purpose of this study was molecular genetic testing genotypes of genus Fragaria L. to identify carriers of Rca2 allele anthracnose resistance and Rpf1 allele red stele root rot resistance. …”
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A case of neuronal intranuclear inclusion disease (NIID) presenting with hydrocephalus-like clinical features: case report by Yonghong Wang, Yongxiang Li, Wei Pan, Yuezhen Shen, Junxia Li, Ying Liu, Yuhua Peng, Shulai Zhu

“…Physical examination indicated pupillary constriction, and electromyography suggested peripheral neuropathy. Genetic testing revealed 91 GGC repeats in the NOTCH2NLC gene, indicating abnormal expansion. …”
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Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy by Minjeong Kim, Yoonjung Kim, Hyemoon Chung, Jiwon Seo, Chul Hwan Park, Tae Hoon Kim, Se-Joong Rim, Kyung-A Lee, Eui-Young Choi

“…A total of 133 patients with HCM underwent chamber geometry, late gadolinium enhancement (LGE), and T1-mapping evaluation using 1.5T cardiac magnetic resonance (CMR) imaging, echo-derived diastolic function analyses, and genetic testing. Left ventricular (LV) segmental and global longitudinal strain (LS), circumferential strain (CS), and rotation were measured using feature tracking analysis. …”
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Identification of a cryptic unbalanced translocation Der(22)t(12;22)(q24.33;q13.33) in a large Chinese family with Phelan-McDermid syndrome by nanopore sequencing by Xingwu Wu, Qiang Xu, Ge Chen, Jialyv Huang, Yanying Zhong, Lifeng Tian, Qiongfang Wu, Jia Chen

“…Additionally, informative SNPs were identified near the breakpoints for preimplantation genetic testing for structure rearrangement (PGT-SR) treatment by nanopore sequencing. …”
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Electroencephalographic and Epilepsy Findings in ZNF711 Variants: A Case Series of Two Siblings by Michele Minerva, Lorenzo Perilli, Samanta Carbone, Margherita Maria Rossi, Federica Lotti, Luisa Lonoce, Maria Rosaria Curcio, Salvatore Grosso

“…Both children underwent various genetic testing and counselling, including an extended next-generation sequencing (NGS) panel, revealing a hemizygous c.657C > G pathogenic variant in the ZNF711 gene from maternal inheritance. …”
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High-resolution genetic analysis of whole APC gene deletions: a report of two cases and patient characteristics by Hiroki Tanabe, Yasuyuki Koshizuka, Kazuyuki Tanaka, Kenji Takahashi, Masami Ijiri, Keitaro Takahashi, Katsuyoshi Ando, Nobuhiro Ueno, Shin Kashima, Takeo Sarashina, Kentaro Moriichi, Kenrokuro Mitsube, Yusuke Mizukami, Mikihiro Fujiya, Yoshio Makita

“…A diagnosis is typically made using colonoscopy, and genetic testing can assist in patient surveillance and carrier identification. …”
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Importance of Aberrant Right Subclavian Artery Detection During Second Trimester Ultrasound Examination in Low-Risk Population by Erdal Seker, Hasan Sut, Mustafa Kocar, Coskun Umit, Esra Ozkavukcu, Acar Koc

“…The patients who did not accept were followed up until after birth, and genetic testing was requested for babies suggestive of anomaly. …”
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