The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis
Christoph Wiesinger,1 Florian S Eichler,2 Johannes Berger1 1Department of Pathobiology of the Nervous System, Center for Brain Research, Medical University of Vienna, Vienna, Austria; 2Department for Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA Abstract: X-linked adrenoleukodystrophy (X-ALD) is caused by mutations in the ABCD1 gene encoding a peroxisomal ABC transporter. In this review, we compare estimates of incidence derived from different populations in order to provide an overview of the worldwide incidence of X-ALD. X-ALD presents with heterogeneous phenotypes ranging from adren...
Source: Application of Clinical Genetics - May 1, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Genetic aspects of X-ALD
Wiesinger C, Eichler FS, Berger J (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - May 1, 2015 Category: Genetics & Stem Cells Source Type: research
The genetic basis of familial adenomatous polyposis and its implications for clinical practice and risk management
Maria Liz Leoz, Sabela Carballal, Leticia Moreira, Teresa Ocaña, Francesc Balaguer Department of Gastroenterology, Hospital Clínic, Centro de Investigación Biomédica en Red en Enfermedades Hepáticas y Digestivas (CIBERehd), Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Barcelona, Catalonia, Spain Abstract: Familial adenomatous polyposis (FAP) is an inherited disorder that represents the most common gastrointestinal polyposis syndrome. Germline mutations in the APC gene were initially identified as responsible for FAP, and later, several studies have also ...
Source: Application of Clinical Genetics - April 16, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Familial adenomatous polyposis genetics and clinical practice
Leoz ML, Carballal S, Moreira L, Ocaña T, Balaguer F (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 15, 2015 Category: Genetics & Stem Cells Source Type: research
Emerging pharmacologic treatment options for fragile X syndrome
Tori L Schaefer, Matthew H Davenport, Craig A Erickson Division of Child and Adolescent Psychiatry, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA Abstract: Fragile X syndrome (FXS) is the most common single gene cause of intellectual disability and autism spectrum disorder. Caused by a silenced fragile X mental retardation 1 gene and the subsequent deficiency in fragile X mental retardation protein, patients with FXS experience a range of physical, behavioral, and intellectual debilitations. The FXS field, as a whole, has recently met with some challenges, as several targeted clinical trials with ...
Source: Application of Clinical Genetics - April 7, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
FXS treatment options
Schaefer TL, Davenport MH, Erickson CA (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - April 6, 2015 Category: Genetics & Stem Cells Source Type: research
Bilateral granulosa cell tumors: a novel malignant manifestation of multiple endocrine neoplasia 1 syndrome found in a patient with a rare menin in-frame deletion
Conclusion: To our knowledge, this is the first report of MEN1 syndrome associated with bilateral granulosa cell malignancy. We postulate that this presentation may be due to the novel menin gene mutation recently described. Keywords: menin gene, ovarian tumors, hyperparathyroidism (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 17, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Bilateral granulose cell tumors
Hall MJ, Innocent J, Rybak C, Veloski C, Scott WJ, Wu H, Ridge JA, Hoffman JP, Borghaei H, Turaka A, Daly MB (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 16, 2015 Category: Genetics & Stem Cells Source Type: research
Moyamoya disease and syndromes: from genetics to clinical management
Stéphanie Guey,1,3 Elisabeth Tournier-Lasserve,1,2 Dominique Hervé,1,3 Manoelle Kossorotoff4 1Inserm UMR-S1161, Université Paris 7 Denis Diderot, Sorbonne Paris Cité, Paris, France; 2AP-HP, Groupe hospitalier Lariboisière-Saint-Louis, Service de génétique neurovasculaire, Paris, France; 3Service de Neurologie, Centre de Référence des maladies Vasculaires Rares du Cerveau et de l'Œil (CERVCO), Groupe Hospitalier Saint-Louis Lariboisière-Fernand Widal, Assistance Publique-Hôpitaux de Paris, Paris, France; 4Pediatric Neurology Department, Fr...
Source: Application of Clinical Genetics - February 16, 2015 Category: Genetics & Stem Cells Tags: The Application of Clinical Genetics Source Type: research
Moyamoya disease and syndromes
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M (Source: Application of Clinical Genetics)
Source: Application of Clinical Genetics - February 16, 2015 Category: Genetics & Stem Cells Source Type: research
