Review
Obstetrics & Gynecology
Maeve K. Hopkins, Lorraine Dugoff, Jeffrey A. Kuller
Summary: This article discusses the genetic forms of spinal muscular atrophy (SMA), guides obstetric providers in interpreting screening results, and recommends SMA carrier screening for all pregnant women. Understanding and interpreting carrier screening results is crucial for prenatal care providers.
OBSTETRICAL & GYNECOLOGICAL SURVEY
(2021)
Article
Clinical Neurology
P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Goncalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira
Summary: This study identified a cohort of 20 patients with SMA type 4 in a Brazilian cohort of 227 SMA patients. The most common clinical symptom was limb-girdle muscle weakness, with absent tendon reflexes in 90% of patients and fasciculations in 45% of patients. The majority of patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 60% of them showing four copies of the SMN2 gene.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Multidisciplinary Sciences
Francois Boemer, Jean-Hubert Caberg, Pablo Beckers, Vinciane Dideberg, Samantha di Fiore, Vincent Bours, Sandrine Marie, Joseph Dewulf, Lionel Marcelis, Nicolas Deconinck, Aurore Daron, Laura Blasco-Perez, Eduardo Tizzano, Mickael Hiligsmann, Jacques Lombet, Tatiana Pereira, Lucia Lopez-Granados, Sarvnaz Shalchian-Tehran, Veronique van Assche, Arabelle Willems, Sofie Huybrechts, Benedicte Mast, Rudolf van Olden, Tamara Dangouloff, Laurent Servais
Summary: Three new therapies for SMA have been approved by FDA and EMA since 2016, with emphasis on early administration before symptoms. A pilot program in Belgium successfully transitioned into an official neonatal screening program, providing valuable lessons for newborn screening.
SCIENTIFIC REPORTS
(2021)
Article
Clinical Neurology
Emilie Groulx-Boivin, Homira Osman, Pranesh Chakraborty, Stacey Lintern, Maryam Oskoui, Kathryn Selby, Paul Van Caeseele, Alexandra Wyatt, Hugh J. McMillan
Summary: There are provincial differences in newborn screening programs in Canada, leading to inconsistent patient care. Currently, four provinces screen for spinal muscular atrophy (SMA), and 72% of Canadian newborns are screened for SMA.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2023)
Review
Cardiac & Cardiovascular Systems
Amy R. Kontorovich
Summary: Patients and families benefit from a multidisciplinary approach, including genetic counseling and genetic testing, to identify the genetic causes of cardiomyopathy. Genetic testing is most effective when performed on individuals with clear symptoms and targets specific genes associated with the specific form of cardiomyopathy. Variants of uncertain significance are common and should be interpreted with caution. Identifying impactful genetic variants can have important prognostic implications and aid in testing at-risk relatives. Personalized treatment approaches may be necessary based on specific genotypes and associated risk factors.
JACC-HEART FAILURE
(2023)
Article
Medical Laboratory Technology
Weijiang Jin, Zhengquan Yang, Xiaojun Tang, Xiuchao Wang, Yaxin Huang, Chenmin Hui, Jiaming Yao, Ju Luan, Shaohua Tang, Shengnan Wu, Shengnan Jin, Chunming Ding
Summary: This study reports the MS-CNV method for the quantification of SMN1 and SMN2 gene dosages in spinal muscular atrophy (SMA). The method is accurate and high-throughput, and can be used for carrier screening and genetic diagnosis of SMA.
CLINICA CHIMICA ACTA
(2022)
Article
Clinical Neurology
Hugh J. McMillan, Kristin D. Kernohan, Ed Yeh, Kim Amburgey, Jennifer Boyd, Craig Campbell, James J. Dowling, Hernan Gonorazky, Janet Marcadier, Mark A. Tarnopolsky, Jiri Vajsar, Alex MacKenzie, Pranesh Chakraborty
Summary: The pilot NBS program in Ontario has established a standardized pathway to facilitate early diagnosis and treatment of SMA, aiming to provide timely medical services to SMA infants in need of therapy.
CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES
(2021)
Article
Clinical Neurology
Jackie Chiang, Lena Xiao, Elisa Nigro, Aaron St-Laurent, Lauren Weinstock, Eugenia Law, Joanna Janevski, Sarah Kuyntjes, Nisha Cithiravel, Tuyen Tran, Nikolaus E. Wolter, Hernan Gonorazky, Reshma Amin
Summary: This study retrospectively investigated sleep disordered breathing in infants with spinal muscular atrophy (SMA) who received gene replacement therapy. The results showed improvement in sleep disordered breathing after treatment. However, the clinical significance of abnormal polysomnogram parameters for children without sleep disordered breathing or neuromuscular weakness remains unclear.
Review
Genetics & Heredity
Karolina Aragon-Gawinska, Charlotte Mouraux, Tamara Dangouloff, Laurent Servais
Summary: Early treatment in spinal muscular atrophy has a significant impact on patient prognosis, and the results vary depending on the number of SMN2 copies and the initial neurological status of the patient.
Article
Medical Laboratory Technology
Jianxin Tan, Jingjing Zhang, Ruihong Sun, Zhu Jiang, Yuguo Wang, Dingyuan Ma, Jiao Jiao, Hao Chen, Yingchun Lin, Qinxin Zhang, Zhengfeng Xu, Ping Hu
Summary: In this study, different methods including qPCR, ddPCR, HRM, and PCR/CE were compared for detecting SMN1 gene copy number in spinal muscular atrophy (SMA) patients. All four methods showed excellent performance in detecting heterozygous deletion of SMN1 exon 7. Among these methods, qPCR was found to be the most cost-effective. This study provides useful information for SMA carrier screening.
CLINICA CHIMICA ACTA
(2023)
Article
Economics
Rimma Velikanova, Simon van der Schans, Matthias Bischof, Rudolf Walther van Olden, Maarten Postma, Cornelis Boersma
Summary: In this study conducted in the Netherlands, including spinal muscular atrophy (SMA) in the newborn screening program was found to improve health outcomes, reduce healthcare costs, and maximize survival through early detection and treatment.
Review
Neurosciences
Brunhilde Wirth
Summary: The review highlights the challenging journey from gene discovery to therapy in spinal muscular atrophy (SMA), emphasizing the importance of perseverance in uncovering the biological mechanisms of the disease. Despite the impressive improvements seen with three therapeutic strategies in SMA, there are still many unanswered questions that need to be addressed as discussed in the review.
TRENDS IN NEUROSCIENCES
(2021)
Article
Genetics & Heredity
Yanan Sun, Songyan Ma, Juan Xiao, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Shufang Li, Ling Feng, Suhua Chen
Summary: This study aimed to clarify the acceptance rate of SMA gene screening and SMA carrier rate among reproductive age women in the Wuhan area of China. The results showed a positive attitude toward general screening for SMA carriers among women of reproductive age, indicating the necessity and feasibility of screening for SMA carriers in this population.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2023)
Article
Medical Laboratory Technology
Xin Wang, Yan-Yun Wang, Dong-Yang Hong, Zhi-Lei Zhang, Ya-Hong Li, Pei-Ying Yang, Yun Sun, Tao Jiang, Zheng-Feng Xu
Summary: Newborn screening, while effective in detecting certain diseases, has limitations and high rates of false results. This study demonstrates the potential and significance of genetic screening in newborns, which can identify a broader range of diseases and improve accuracy.
CLINICA CHIMICA ACTA
(2022)
Article
Clinical Neurology
Tamara Dangouloff, Mickael Hiligsmann, Nicolas Deconinck, Adele D'Amico, Andreea M. Seferian, Francois Boemer, Laurent Servais
Summary: This study aims to compare the societal financial costs and quality of life (QoL) between untreated patients with spinal muscular atrophy (SMA) and treated patients identified by symptoms or early testing. The results show that the total costs are lower for untreated patients, but lower for patients identified by early testing. Early patient identification and treatment can reduce the overall societal costs of SMA.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Ibrahim Sahin, Hanife Saat
Summary: This study identified 22 specific HSPs-HSAs-SAP mutations, including 14 novel mutations, in 25 patients with spastic or spastic-ataxic gait, expanding the clinical and molecular scope of HSP and clarifying the concept of the spasticity-ataxia phenotype. The research reveals a robust genotype-phenotype heterogeneity in the disease, broadening the spectrum of HSPs and HSAs related gene mutations and providing insights for genotype-phenotype correlations for HSPs and HSAs.
ACTA NEUROLOGICA BELGICA
(2022)
Article
Biochemistry & Molecular Biology
Ibrahim Sahin, Hanife Saat
Summary: This study identified mutated genes associated with hereditary cancers and suggested that monoallelic mutations in MUTYH, MSH6, APC, CDH1, MHS2, and PMS2 may also contribute to hereditary breast-ovarian cancer. Assessing and researching new variants of known cancer candidate genes will play an important role in improving individual risk prediction, therapy, and prognosis for familial cancers.
GENETIC TESTING AND MOLECULAR BIOMARKERS
(2022)
Article
Oncology
Ibrahim Sahin, Hanife Saat, Sercan Aksoy, Omer Dizdar, Haktan Bagis Erdem, Taha Bahsi
Summary: This study performed a comprehensive liquid biopsy panel on patients with lung and breast cancer and found that mutations in PIK3CA, PTEN, and RET were common in these patients. The results showed that sequencing of PIK3CA, PTEN, and RET could assess clinical characteristics and prognosis in patients with lung and breast cancer and potentially improve individual risk prediction, therapy, and prognosis.
MOLECULAR AND CLINICAL ONCOLOGY
(2022)
Article
Oncology
Ibrahim Sahin, Hanife Saat, Sercan Aksoy
Summary: This study highlights the importance of recurrent germline mutations of BRCA1-2 in breast and ovarian cancer syndromes, and introduces the occurrence of these mutations in patients with Lynch syndrome for the first time.
UHOD-ULUSLARARASI HEMATOLOJI-ONKOLOJI DERGISI
(2022)
Article
Clinical Neurology
Ahmet Cevdet Ceylan, Oya Kireker Koylu, Hamit Ozyurek, Eda Ozaydin, Mehmet Ilker Yon, Cigdem Seher Kasapkara
Summary: This study investigates the clinical implications of the SLC20A2 gene and identifies a new phenotype through a family. Whole exome sequencing reveals that biallelic mutations in the SLC20A2 gene lead to severe neurological symptoms in affected siblings. This finding contradicts previous understanding of the disease.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Biotechnology & Applied Microbiology
Zeynep Ozdemir, Ezgi Cevik, Omuer Berna Cakmak Oksuzoglu, Mutlu Dogan, Ozturk Ates, Ece Esin, Irem Bilgetekin, Umut Demirci, Caglar Koseoglu, Alper Topal, Nuri Karadurmus, Haktan Bagis Erdem, Taha Bahsi
Summary: By studying 1254 individuals suspected of having a familial predisposition for cancer, this research utilized next-generation sequencing technologies and identified pathogenic/likely pathogenic variants in 13.7% of the patients. The most prevalent types of cancer were breast, colorectal, ovarian, endometrium, stomach, and prostate cancer. Additionally, the study discovered 11 novel variations.
MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS
(2023)
Article
Genetics & Heredity
Tuna Eren Esen, Ozlem Unal Uzun, Ahmet Cevdet Ceylan
Summary: This report describes a case of a 17-year-old male with a mild skeletal dysplasia caused by a novel homozygous missense variant in the SLC35D1 gene. The findings confirm the existence of nonlethal skeletal dysplasias associated with biallelic SLC35D1 variants and suggest a phenotypic spectrum.
MOLECULAR SYNDROMOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Hanife Saat, Ibrahim Sahin, Haktan Bagis Erdem, Senem Ozgur, Semiha Terlemez Tokgoz, Taha Bahsi
Summary: This study identified several pathogenic or likely pathogenic mutations in ion channel-related genes through next-generation sequencing in 13 unrelated patients, indicating the strong genetic heterogeneity of the disease. It also revealed that genetic mutations unrelated to long QT syndrome may cause QT interval prolongation on electrocardiogram.
ANATOLIAN JOURNAL OF CARDIOLOGY
(2022)
Article
Hematology
Samet Yaman, Semih Basci, Gokhan Turan, Bahar Uncu Ulu, Tugce Nur Yigenoglu, Taha Bahsi, Haktan Bagis Erdem, Mehmet Sinan Dal, Merih Kizil Cakar, Fevzi Altuntas
Summary: This study investigated the frequency of patients applying for high hemoglobin and tested for possible polycythemia vera (PV) in the pandemic era. The results suggest that clinicians may need to re-evaluate the threshold of hemoglobin levels to order JAK2 tests in the pandemic era.
IRAQI JOURNAL OF HEMATOLOGY
(2022)
Meeting Abstract
Biochemistry & Molecular Biology
Paulina Z. M. Kempe, Oznur Yilmaz, Tobias T. Lindenberg, Jaya Punetha, Jeshurun C. Kalanithy, Haktan B. Erdem, Zeynep C. Akdemir, Ender Karaca, Tadahiro Mitani, Dana Marafi, Jawid M. Fatih, Shalini N. Jhangiani, Boris Keren, Julien Buratti Buratti, Perrine Charles, Caroline Nava, Davut Pehlivan, Jennifer E. Posey, James R. Lupski, Ben Odermatt, Heiko Reutter, Gabriel C. Dworschak
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)
Article
Medicine, General & Internal
Ibrahim Sahin, Hanife Saat, Haktan Bagis Erdem, Taha Bahsi
Summary: A comprehensive liquid biopsy panel was performed on advanced resistant cancer patients to explore the challenges, limitations, and methods in liquid biopsy testing. The results showed the presence of different gene mutations and resistance mechanisms, emphasizing the importance of a comprehensive approach and personalized treatment strategies for cancer patients.
GAZI MEDICAL JOURNAL
(2022)
Meeting Abstract
Pediatrics
Zehra Aydin, Fatma Semsa Cayci, Ibrahim Sahin, Umut Selda Bayrakci
PEDIATRIC NEPHROLOGY
(2021)
Meeting Abstract
Pediatrics
Zehra Aydin, Fatma Semsa Cayci, Ibrahim Sahin, Mihriban Inozu, Begum Avci, Umut Selda Bayrakci
PEDIATRIC NEPHROLOGY
(2021)