American Journal of Medical Genetics Part C: Seminars in Medical Genetics This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Table of Contents, Volume 172C, Number 4, December 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 11, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Cover Image, Volume 172C, Number 4, December 2016
The cover, by Vijay G. Sankaran et al., is based on Research Review the Emerging cellular and gene therapies for congenital anemias, DOI: 10.1002/ajmg.c.31529. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - December 11, 2016 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Mast cell disorders in Ehlers –Danlos syndrome
This report reviews basic biology of mast cells and mast cell activation as well as recent research efforts, which implicate a role of MC dysregulation beyond atopic disorders and in a cluster of Ehlers–Danlos Syndromes, non‐IGE mediated hypersensitivity disorders, and dysautonomia. © 2017 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Suranjith L. Seneviratne, Anne Maitland, Lawrence Afrin Tags: Research Review Source Type: research

Neurological and spinal manifestations of the Ehlers –Danlos syndromes
This report also discusses increased prevalence of migraine, idiopathic intracranial hypertension, Tarlov cysts, tethered cord syndrome, and dystonia, where associations with EDS have been anecdotally reported, but where epidemiological evidence is not yet available. Chiari Malformation Type I (CMI) has been reported to be a comorbid condition to EDS, and may be complicated by craniocervical instability or basilar invagination. Motor delay, headache, and quadriparesis have been attributed to ligamentous laxity and instability at the atlanto‐occipital and atlantoaxial joints, which may complicate all forms of EDS. Discopa...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Fraser C. Henderson, Claudiu Austin, Edward Benzel, Paolo Bolognese, Richard Ellenbogen, Clair A. Francomano, Candace Ireton, Petra Klinge, Myles Koby, Donlin Long, Sunil Patel, Eric L. Singman, Nicol C. Voermans Tags: Research Review Source Type: research

Ehlers –Danlos syndrome, classical type
Classical EDS is a heritable disorder of connective tissue. Patients are affected with joint hypermobility, skin hyperextensibilty, and skin fragility leading to atrophic scarring and significant bruising. These clinical features suggest consideration of the diagnosis which then needs to be confirmed, preferably by genetic testing. The most recent criteria for the diagnosis of EDS were devised in Villefranche in 1997. [Beighton et al. (1998); Am J Med Genet 77:31‐37]. The aims set out in the Villefranche Criteria were: to enable diagnostic uniformity for clinical and research purposes, to understand the natural history o...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Jessica M. Bowen, Glenda J. Sobey, Nigel P. Burrows, Marina Colombi, Mark E. Lavallee, Fransiska Malfait, Clair A. Francomano Tags: Research Review Source Type: research

Gastrointestinal involvement in the Ehlers –Danlos syndromes
Current evidence suggests that an association exists between non‐inflammatory hereditary disorders of connective tissue such as the Ehlers–Danlos syndromes (EDS) and gastrointestinal (GI) symptoms. Patients with EDS can present with both structural problems such as hiatus hernias, visceroptosis, rectoceles, and rectal prolapse as well as functional problems such as disordered gut motility. It has recently been demonstrated that patients with hypermobile EDS (hEDS) present with GI symptoms related to the fore and hind‐gut and these patients frequently meet the criteria for functional gastrointestinal disorders such as...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Asma Fikree, Gisela Chelimsky, Heidi Collins, Katcha Kovacic, Qasim Aziz Tags: Research Article Source Type: research

Cardiovascular autonomic dysfunction in Ehlers –Danlos syndrome—hypermobile type
Autonomic dysfunction contributes to health‐related impairment of quality of life in the hypermobile type of Ehlers–Danlos syndrome (hEDS). Typical signs and symptoms include tachycardia, hypotension, gastrointestinal dysmotility, and disturbed bladder function and sweating regulation. Cardiovascular autonomic dysfunction may present as Orthostatic Intolerance, Orthostatic Hypotension, Postural Orthostatic Tachycardia Syndrome, or Neurally Mediated Hypotension. The incidence, prevalence, and natural history of these conditions remain unquantified, but observations from specialist clinics suggest they are frequently see...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Alan Hakim, Chris O'Callaghan, Inge De Wandele, Lauren Stiles, Alan Pocinki, Peter Rowe Tags: Research Article Source Type: research

Hypermobile Ehlers –Danlos syndrome (a.k.a. Ehlers–Danlos syndrome Type III and Ehlers–Danlos syndrome hypermobility type): Clinical description and natural history
The hypermobile type of Ehlers–Danlos syndrome (hEDS) is likely the most common hereditary disorder of connective tissue. It has been described largely in those with musculoskeletal complaints including joint hypermobility, joint subluxations/dislocations, as well as skin and soft tissue manifestations. Many patients report activity‐related pain and some go on to have daily pain. Two undifferentiated syndromes have been used to describe these manifestations—joint hypermobility syndrome and hEDS. Both are clinical diagnoses in the absence of other causation. Current medical literature further complicates differentiati...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 30, 2016 Category: Genetics & Stem Cells Authors: Brad Tinkle, Marco Castori, Britta Berglund, Helen Cohen, Rodney Grahame, Hanadi Kazkaz, Howard Levy Tags: Research Article Source Type: research

Angelman syndrome: Current and emerging therapies in 2016
Angelman syndrome (AS) is a severe neurodevelopmental disorder caused by a loss of the maternally‐inherited UBE3A; the paternal UBE3A is silenced in neurons by a mechanism involving an antisense transcript (UBE3A‐AS) at the unmethylated paternal locus. We reviewed all published information on the clinical trials that have been completed as well as the publicly available information on ongoing trials of therapies in AS. To date, all clinical trials that strove to improve neurodevelopment in AS have been unsuccessful. Attempts at hypermethylating the maternal locus through dietary compounds were ineffective. The results ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 7, 2016 Category: Genetics & Stem Cells Authors: Wen ‐Hann Tan, Lynne M. Bird Tags: Research Review Source Type: research

Treatment of genetic disorders —A vision coming into focus
This issue of the Seminar Series is devoted to reviewing the state‐of‐the‐art for treatment of non‐metabolic genetic disorders. We begin with a primer on the design of studies in rare diseases. We then review a broad spectrum of disorders to reflect many different genetic mechanisms, including disorders stemming from a chromosomal basis as well as those due to single gene aberrations; those demonstrating principles of imprinting and mosaicism; and single organ as well as multisystem disorders. In doing so, a wide variety of treatment approaches are explained in this issue, including cell therapy, chromosome therapy...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 2, 2016 Category: Genetics & Stem Cells Authors: Lynne M. Bird, Wen ‐Hann Tan Tags: Introduction Source Type: research

Pharmacological and biological therapeutic strategies for osteogenesis imperfecta
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility, low bone mass, and bone deformities. The majority of cases are caused by autosomal dominant pathogenic variants in the COL1A1 and COL1A2 genes that encode type I collagen, the major component of the bone matrix. The remaining cases are caused by autosomal recessively or dominantly inherited mutations in genes that are involved in the post‐translational modification of type I collagen, act as type I collagen chaperones, or are members of the signaling pathways that regulate bone homeostasis. The main goals of treatment in OI are ...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 2, 2016 Category: Genetics & Stem Cells Authors: Ronit Marom, Yi ‐Chien Lee, Ingo Grafe, Brendan Lee Tags: Research Review Source Type: research

Perspectives on the care and advances in the management of children with trisomy 13 and 18
The trisomy 13 and trisomy 18 syndromes are important and relatively common chromosome conditions each consisting of a recognizable pattern of multiple congenital anomalies, an increased neonatal and infant mortality, and a marked cognitive and motor disability in older children. Because of the medically serious nature of the outcomes, the traditional approach to management in the newborn and early infancy periods has been to withhold technological support and surgery. In the last decade a rich dialogue has emerged in the literature; one view makes the case for pure comfort care for the benefit of the child while the other...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 18, 2016 Category: Genetics & Stem Cells Authors: John C. Carey, Tomoki Kosho Tags: Introduction Source Type: research

Publication schedule for 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 18, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research

Table of Contents, Volume 172C, Number 3, September 2016
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 18, 2016 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Cover Image, Volume 172C, Number 3, September 2016
The cover photographs were all taken by Rick Guidotti, famous photographer and founder of Positive Exposure, at the 2016 SOFT Conference in Tacoma, WA. The children have full trisomy 13 or 18 with the exception of one girl with trisomy 13 mosaicism. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 18, 2016 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research