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Ji Yoon Han, Joonhong Park
BACKGROUND: SCN4A mutations account for a diverse array of clinical manifestations, encompassing periodic paralysis, myotonia, and newly recognized symptoms like classical congenital myopathy or congenital myasthenic syndromes. We describe the initial occurrence of myopathic features mimic with recessive classical CM in a Korean infant presenting with novel compound heterozygous SCN4A mutations. The infant exhibited profound hypotonia after birth, thereby expanding the spectrum of SCN4A -related channelopathy...
April 15, 2024: Heliyon
#2
JOURNAL ARTICLE
Lama AlAbdi, Sateesh Maddirevula, Hanan E Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Fowzan S Alkuraya
Despite large sequencing and data sharing efforts, previously characterized pathogenic variants only account for a fraction of Mendelian disease patients, which highlights the need for accurate identification and interpretation of novel variants. In a large Mendelian cohort of 4577 molecularly characterized families, numerous scenarios in which variant identification and interpretation can be challenging are encountered. We describe categories of challenges that cover the phenotype (e.g. novel allelic disorders), pedigree structure (e...
August 29, 2023: Nature Communications
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JOURNAL ARTICLE
Anouk Le Goueff, Guillaume Smits, Mélanie Delaunoy, Isabelle Vandernoot, Frédéric Vandergheynst
INTRODUCTION: Autoinflammatory diseases (AID) are a group of rare monogenic illnesses, leading to uncontrolled activation of the innate immune system and presenting with recurrent flares of systemic and localized inflammation. Diagnosis is confirmed by the detection of a class IV or class V gene variant in an AID-related gene and improvements in sequencing techniques have enabled the discovery of new entities. The aim of our study is to explore the diagnostic yield of evolving genetic testing methods for AID and to determine whether increasing gene panels generate a higher diagnostic rate...
December 2022: European Journal of Internal Medicine
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JOURNAL ARTICLE
Vyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, Femke Tammer, Anke J M Oerlemans, Martine P A van Koolwijk, Frans van Agt, Yvonne H J M Arens, Han G Brunner, Lisenka E L M Vissers, Helger G Yntema
Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during a 5-year period in which 16,482 index patients received clinical whole-exome sequencing (WES). UFs were identified in 0.58% (95/16,482) of index patients, indicating that the overall frequency of UFs in clinical WES is low. Fewer UFs were identified using restricted disease-gene panels (0...
February 2022: European Journal of Human Genetics: EJHG
#5
Shahida Moosa, Farida Chentli, Janine Altmüller, Nina Bögershausen, Peter Nürnberg, Gökhan Yigit, Yun Li, Bernd Wollnik
Short stature is one of the most common reasons for a referral to the pediatric endocrinology clinic. Thousands of patients with short stature are assessed annually at the Department of Endocrine and Metabolic Diseases (DEMD) at Bab el Oued University Hospital in Algiers, Algeria. However, diagnostic rates in patients with syndromic short stature are not optimal due to the unavailability of next generation sequencing (NGS) technology. Here, we enrolled 10 Algerian patients with syndromic short stature in a pilot study to test the impact of genetic and genomic approaches in the DEMD...
February 2022: American Journal of Medical Genetics. Part A
#6
JOURNAL ARTICLE
Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, Winnie Courtens, François-Guillaume Debray, Anne Destree, Koenraad Devriendt, Anna Jansen, Kathelijn Keymolen, Damien Lederer, Bart Loeys, Marije Meuwissen, Stéphanie Moortgat, Geert Mortier, Marie-Cécile Nassogne, Tayeb Sekhara, Rudy Van Coster, Jenny Van Den Ende, Nathalie Van der Aa, Hilde Van Esch, Olivier Vanakker, Helene Verhelst, Catheline Vilain, Sarah Weckhuysen, Sandrine Passemard, Alain Verloes, Alec Aeby, Nicolas Deconinck, Patrick Van Bogaert, Isabelle Pirson, Marc Abramowicz
BACKGROUND: Primary microcephaly (PM) is defined as a significant reduction in occipitofrontal circumference (OFC) of prenatal onset. Clinical and genetic heterogeneity of PM represents a diagnostic challenge. METHODS: We performed detailed phenotypic and genomic analyses in a large cohort (n = 169) of patients referred for PM and could establish a molecular diagnosis in 38 patients. RESULTS: Pathogenic variants in ASPM and WDR62 were the most frequent causes in non-consanguineous patients in our cohort...
August 17, 2021: Molecular Genetics & Genomic Medicine
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JOURNAL ARTICLE
Parneet Kaur, Michelle C do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Nair, Shrikiran A, Ramesh Bhat Y, Leslie Edward S Lewis, Sheela Nampoothiri, Siddaramappa J Patil, Narayanaswami Suresh, Sunita Bijarnia Mahay, Ratna Dua Puri, Shivanand Pai, Anupriya Kaur, Rakshith Kc, Nutan Kamath, Shruti Bajaj, Ali Kumble, Rajesh Shetty, Rathika Shenoy, Mahesh Kamate, Hitesh Shah, Mamta N Muranjan, Yatheesha Bl, K Shreedhara Avabratha, Girish Subramaniam, Rajagopal Kadavigere, Stephanie Bielas, Katta Mohan Girisha, Anju Shukla
Genetic disorders with predominant central nervous system white matter abnormalities (CNS WMAs), also called leukodystrophies, are heterogeneous entities. We ascertained 117 individuals with CNS WMAs from 104 unrelated families. Targeted genetic testing was carried out in 16 families and 13 of them received a diagnosis. Chromosomal microarray (CMA) was performed for three families and one received a diagnosis. Mendeliome sequencing was used for testing 11 families and all received a diagnosis. Whole exome sequencing (WES) was performed in 80 families and was diagnostic in 52 (65%)...
November 2021: Clinical Genetics
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JOURNAL ARTICLE
Nurettin Bayram, Ayşe Kaçar Bayram, Hülya-Sevcan Daimagüler, Hormos Salimi Dafsari, Daniel Bamborschke, Gökhan Uyanik, Murat Erdogan, Cemal Özsaygılı, Emine Pangal, İsa Yuvaci, Selim Doğanay, Hakan Gümüş, Hüseyin Per, Heinz Jungbluth, Sebahattin Çırak
PURPOSE: This study aims to present a family with two children with MSS who presented with different ophthalmic features. We also aim to review MSS patients' ocular manifestations to provide a basis for future clinical trials and improve MSS patients' ophthalmologic care. CASE DESCRIPTION: Both patients presented with global developmental delay, microcephaly, cerebellar ataxia, and myopathy. The older sibling had developed bilateral cataracts at the age of six. Her 2 years younger sister interestingly showed bilateral hyperopic refractive error without cataracts yet...
May 2022: European Journal of Ophthalmology
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JOURNAL ARTICLE
Hülya-Sevcan Daimagüler, Ugur Akpulat, Özkan Özdemir, Uluc Yis, Serdal Güngör, Beril Talim, Gülden Diniz, Figen Baydan, Holger Thiele, Janine Altmüller, Peter Nürnberg, Sebahattin Cirak
Congenital myopathies (CMs) are a heterogeneous group of inherited muscle disorders characterized by muscle weakness at birth, while limb-girdle muscular dystrophies (LGMD) have a later onset and slower disease progression. Thus, detailed clinical phenotyping of genetically defined disease entities are required for the full understanding of genotype-phenotype correlations. A recently defined myopathic genetic disease entity is caused by bi-allelic variants in a gene coding for pyridine nucleotide-disulfide oxidoreductase domain 1 (PYROXD1) with unknown substrates...
June 2021: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Pauline Dontaine, Elisa Kottos, Martine Dassonville, Ovidiu Balasel, Véronique Catros, Julie Soblet, Pascale Perlot, Catheline Vilain
Snyder-Robinson syndrome (OMIM #309583) is a rare X-linked condition, caused by mutation in the SMS gene (MIM *300105), characterized by a wide spectrum of clinical signs including developmental delay, epilepsy, asthenic habitus, dysmorphism, osteopenia, and renal or genital anomalies. Here we describe two maternal half-brothers who both presented with severe neurodevelopmental delay, seizures, hearing loss, facial dysmorphism, renal and ophthalmologic anomalies, failure to thrive and premature death. A novel p...
January 2021: European Journal of Medical Genetics
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COMPARATIVE STUDY
Reuben J Pengelly, Daniel Ward, David Hunt, Christopher Mattocks, Sarah Ennis
Next generation sequencing has disrupted genetic testing, allowing far more scope in the tests applied. The appropriate sections of the genome to be tested can now be readily selected, from single mutations to whole-genome sequencing. One product offering within this spectrum are focused exomes, targeting ~5,000 genes know to be implicated in human disease. These are designed to offer a flexible platform offering high diagnostic yield with a reduction in sequencing requirement compared to whole exome sequencing...
February 24, 2020: Scientific Reports
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JOURNAL ARTICLE
Bernd F M Romeike, Kerstin Becker, Julian Großkreutz, Solveig Schulz, Joachim Weis, Sebahattin Cirak
INTRODUCTION: Next-generation sequencing in cases of hereditary neuromuscular disorders often yields multiple candidate gene variants. Here, we describe a case with mutations in two genes, lamin A/C (LMNA) and exostosin glycosyltransferase 2 (EXT2) , which led to hereditary myopathy combined with multiple exostoses. CASE HISTORY: A 51-year-old German woman with a history of removal of multiple exostoses during childhood presented with proximal limb-girdle muscular dystrophy and a newly diagnosed cardiomyopathy with atrioventricular conduction block...
September 2019: Clinical Neuropathology
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JOURNAL ARTICLE
Gilbert Wunderlich, Anna Brunn, Hülya-Sevcan Daimagüler, Tarik Bozoglu, Gereon R Fink, Helmar C Lehmann, Joachim Weis, Sebahattin Cirak
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myopathy presentation of co-occurring cores and rods. The patient reported early childhood onset weakness. Muscle-MRI showed mainly proximal muscle involvement. We identified two compound heterozygous non-sense mutations in NEB (c...
June 2018: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
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JOURNAL ARTICLE
Salem Alawbathani, Amit Kawalia, Mert Karakaya, Janine Altmüller, Peter Nürnberg, Sebahattin Cirak
Rare diseases are often misdiagnosed or receive a delayed diagnosis; thus, unfortunately, affected individuals may not receive optimal medical management. Here, we report a case of two siblings with a severe phenotype of progressive pseudorheumatoid dysplasia (PPD). Their onset of symptoms began at the age of 3 yr. Both were neglected in the past, and the patients presented with a very severe phenotype and unmitigated natural history. PPD is a rare autosomal recessive skeletal dysplasia characterized by progressive joint stiffness, swelling, and pain...
February 2018: Cold Spring Harbor Molecular Case Studies
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JOURNAL ARTICLE
Susann Weissbach, Marie-Christine Reinert, Janine Altmüller, Ralph Krätzner, Holger Thiele, Thorsten Rosenbaum, Peter Nürnberg, Jutta Gärtner
Cabezas type of X-linked syndromic intellectual disability (MRXSC; MIM300354) is a rare X-linked recessive intellectual disability characterized primarily by intellectual disability, short stature, hypogonadism, and gait abnormalities. It is caused by a wide spectrum of hemizygous variants in CUL4B. In a 10-year-old boy with an exceptional leukoencephalopathy pattern, we identified a new missense variant p.Leu329Gln in CUL4B using "Mendeliome" sequencing. However, his phenotype does not include the severe characteristics currently known for MRXSC...
October 2017: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu, Sebahattin Cirak
The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-183/12 -year-old boy, from a 2nd degree consanguineous family, who presented at 36/12 years with hypotonia, distal laxity, contractures, feeding difficulties at birth. He required surgery for progressive scoliosis at 16 years of age, and walked independently since then with an unstable gait and coordination defects. His latest examination at 18 years of age revealed a proprioceptive defect and loss-of-joint position sense in the upper limbs...
April 2017: Journal of Human Genetics
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JOURNAL ARTICLE
Nina Bögershausen, Umut Altunoglu, Filippo Beleggia, Gökhan Yigit, Hülya Kayserili, Peter Nürnberg, Yun Li, Janine Altmüller, Bernd Wollnik
Kabuki syndrome (KS) is a rare developmental disorder characterized by multiple congenital malformations, postnatal growth retardation, intellectual disability, and recognizable facial features. It is mainly caused by mutations in either KMT2D or KDM6A. We describe a 14-year-old boy with KS presenting with an unusual combination of bilateral microphthalmia with orbital cystic venous lymphatic malformation and neonatal cholestasis with bile duct paucity, in addition to the typical clinical features of KS. We identified the novel KMT2D mutation c...
December 2016: American Journal of Medical Genetics. Part A
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JOURNAL ARTICLE
Walid Fazeli, Mert Karakaya, Peter Herkenrath, Anne Vierzig, Jörg Dötsch, Jürgen-Christoph von Kleist-Retzow, Sebahattin Cirak
BACKGROUND: Neonatal lactic acidosis can be associated to severe inborn errors of metabolism. Rapid identification of the underlying disorder may improve the clinical management through reliable counseling of the parents and adaptation of the treatment. METHODS: We present the case of a term newborn with persistent hypoglycemia on postnatal day 1, who developed severe lactic acidosis, aggravating under intravenous glucose administration. Routine metabolic investigations revealed elevated pyruvate and lactate levels in urine, and magnetic resonance spectroscopy showed a lactic acid peak and decreased N-acetylaspartate levels...
December 2016: Molecular and Cellular Pediatrics
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JOURNAL ARTICLE
James P Evans, Kirk C Wilhelmsen, Jonathan Berg, Charles P Schmitt, Ashok Krishnamurthy, Karamarie Fecho, Stanley C Ahalt
INTRODUCTION: In genomics and other fields, it is now possible to capture and store large amounts of data in electronic medical records (EMRs). However, it is not clear if the routine accumulation of massive amounts of (largely uninterpretable) data will yield any health benefits to patients. Nevertheless, the use of large-scale medical data is likely to grow. To meet emerging challenges and facilitate optimal use of genomic data, our institution initiated a comprehensive planning process that addresses the needs of all stakeholders (e...
2016: EGEMS
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JOURNAL ARTICLE
Shahida Moosa, Maria Gabriela Obregon, Janine Altmüller, Holger Thiele, Peter Nürnberg, Virginia Fano, Bernd Wollnik
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is an autosomal recessive ciliary chondrodysplasia characterized by a recognizable craniofacial gestalt, skeletal abnormalities, and ectodermal features. To date, four genes have been shown to underlie the syndrome, namely, IFT122 (WDR10), WDR35 (IFT121), IFT43 (C14orf179), and WDR19 (IFT144). Clinical characterization of a larger cohort of patients with CED has been undertaken previously. Nevertheless, there are too few molecularly confirmed patients reported in the literature to determine precise genotype-phenotype correlations...
May 2016: American Journal of Medical Genetics. Part A
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