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.

Inner ear manifestations in CHARGE: Abnormalities, treatments, animal models, and progress toward treatments in auditory and vestibular structures
The inner ear contains the sensory organs for hearing and balance. Both hearing and balance are commonly affected in individuals with CHARGE syndrome (CS), an autosomal dominant condition caused by heterozygous pathogenic variants in the CHD7 gene. Semicircular canal dysplasia or aplasia is the single most prevalent feature in individuals with CHARGE leading to deficient gross motor skills and ambulation. Identification of CHD7 as the major gene affected in CHARGE has enabled acceleration of research in this field. Great progress has been made in understanding the role of CHD7 in the development and function of the inner e...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - October 30, 2017 Category: Genetics & Stem Cells Authors: Daniel I. Choo, Kareem O. Tawfik, Donna M. Martin, Yehoash Raphael Tags: RESEARCH REVIEW Source Type: research

Genetic rodent models of brain disorders: Perspectives on experimental approaches and therapeutic strategies
Neurobehavioral disorders comprised of neurodegenerative, neurodevelopmental, and psychiatric disorders together represent leading causes of morbidity and mortality. Despite significant academic research and industry efforts to elucidate the disease mechanisms operative in these disorders and to develop mechanism‐based therapies, our understanding remains incomplete and our access to tractable therapeutic interventions severely limited. The magnitude of these short‐comings can be measured by the growing list of disappointing clinical trials based on initially promising compounds identified in genetic animal models. Thi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 14, 2017 Category: Genetics & Stem Cells Authors: Christopher M. McGraw, Christopher S. Ward, Rodney C. Samaco Tags: COMMENTARY Source Type: research

Publication schedule for 2017
(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 14, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐Publication Schedule Source Type: research

Table of Contents, Volume 175C, Number 3, September 2017
(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 14, 2017 Category: Genetics & Stem Cells Tags: Issue Information ‐TOC Source Type: research

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
CHARGE syndrome (CS) is a genetic disorder whose first description included Coloboma, Heart disease, Atresia of choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and deafness, most often caused by a genetic mutation in the CHD7 gene. Two features were then added: semicircular canal anomalies and arhinencephaly/olfactory bulb agenesis, with classification of typical, partial, or atypical forms on the basis of major and minor clinical criteria. The detection rate of a pathogenic variant in the CHD7 gene varies from 67% to 90%. To try to have an overview of this heterogenous clinical condition an...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Marine Legendre, V éronique Abadie, Tania Attié‐Bitach, Nicole Philip, Tiffany Busa, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Didier Lacombe, Annick Toutain, Sophie Blesson, Sophie Julia, Dominique Martin‐Coignard, David Geneviève, Bruno Tags: RESEARCH ARTICLE Source Type: research

New insights and advances in CHARGE syndrome: Diagnosis, etiologies, treatments, and research discoveries
CHARGE syndrome is a multiple congenital anomaly condition caused, in a majority of individuals, by loss of function pathogenic variants in the gene CHD7. In this special issue of the American Journal of Medical Genetics part C, authors of eleven manuscripts describe specific organ system features of CHARGE syndrome, with a focus on recent developments in diagnosis, etiologies, and treatments. Since 2004, when CHD7 was identified as the major causative gene in CHARGE, several animal models (mice, zebrafish, flies, and frog) and cell‐based systems have been developed to explore the underlying pathophysiology of this condi...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Conny van Ravenswaaij ‐Arts, Donna M. Martin Tags: INTRODUCTION Source Type: research

Distinct cerebellar foliation anomalies in a Chd7 haploinsufficient mouse model of CHARGE syndrome
We describe specific alterations in the precise spatio‐temporal sequence of fissure formation during perinatal cerebellar development responsible for these foliation anomalies. The altered cerebellar foliation pattern in Chd7 haploinsufficient mice show some similarities to those reported in mice with altered Engrailed, Fgf8 or Zic1 gene expression and we propose that mutations or polymorphisms in these genes may modify the cerebellar phenotype in CHARGE syndrome. Our findings in a mouse model of CHARGE syndrome indicate that a careful analysis of cerebellar foliation may be warranted in patients with CHARGE syndrome, pa...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Danielle E. Whittaker, Sahrunizam Kasah, Alex P. A. Donovan, Jacob Ellegood, Kimberley L. H. Riegman, Holger A. Volk, Imelda McGonnell, Jason P. Lerch, M. Albert Basson Tags: RESEARCH ARTICLE Source Type: research

Immunodeficiency in CHARGE syndrome
Immunodeficiency can occur in CHARGE syndrome, with immunophenotypes including reduction in T‐cell counts, combined T‐B cell defects rarely requiring antibiotic prophylaxis or immunoglobulin replacement, and severe combined immunodeficiency, which is fatal without immune reconstitution. However, the prevalence of immunodeficiency in CHARGE syndrome remains unclear with few prospective studies. In this review, we examine the existing literature covering immunodeficiency associated with CHARGE syndrome, compare these with immunodeficiencies reported in 22q11.2 deletion syndrome (a condition that shares many phenotypic ch...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Sam Mehr, Peter Hsu, Dianne Campbell Tags: RESEARCH REVIEW Source Type: research

Reproductive endocrine phenotypes relating to CHD7 mutations in humans
Mutations in the gene CHD7 cause CHARGE syndrome, a rare multi‐organ syndromic disorder. Gonadal defects are common in individuals with CHARGE syndrome (seen in ∼60–80% of cases) and represent the letter “G” in the CHARGE syndrome acronym. The gonadal defect in CHARGE syndrome results from congenital deficiency of the hypothalamic hormone Gonadotropin‐releasing hormone (GnRH), which manifests clinically as pubertal failure and infertility, and biochemically as hypogonadotropic hypogonadism (low sex steroid hormone levels with inappropriately normal or low gonadotropin levels). In addition to the gonadal endocri...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Ravikumar Balasubramanian, William F. Crowley Tags: RESEARCH REVIEW Source Type: research

Genetic counseling in CHARGE syndrome: Diagnostic evaluation through follow up
CHARGE syndrome (CS) is a complex genetic disorder causing multiple birth defects and sensory deficits (hearing, vision, balance, smell). Genetic counseling in CS must include not only the provision of factual information about CS, its cause, and inheritance, but also information about the developmental implications of CS features, referral to appropriate resources, and assistance with psychosocial adaptation to this information. CS should be considered in patients with any of the major diagnostic features: coloboma, choanal atresia, semicircular canal anomalies, or cranial nerve anomalies. The prime candidates in the diff...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - September 1, 2017 Category: Genetics & Stem Cells Authors: Margaret A. Hefner, Emily Fassi Tags: RESEARCH REVIEW Source Type: research

Behavior in CHARGE syndrome
This article addresses how pain, sensory issues, and anxiety may impact the behavior of individuals with CHARGE syndrome, and how the development of self‐regulation skills might help to mitigate some of the behaviors. (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 1, 2017 Category: Genetics & Stem Cells Authors: Timothy S. Hartshorne, Kasee K. Stratton, David Brown, Shanti Madhavan ‐Brown, Megan C. Schmittel Tags: RESEARCH REVIEW Source Type: research

Cover Image, Volume 175C, Number 3, September 2017
The cover image, by Gene S. Fisch, is based on the Introduction Introduction to Behavioral Phenotypes In Medical Genetics, DOI: 10.1002/ajmg.c.31573. (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 1, 2017 Category: Genetics & Stem Cells Tags: Cover Image Source Type: research

Whither the genotype ‐phenotype relationship? An historical and methodological appraisal
More than a century ago, Wilhelm Johannsen proposed the terms “genotype” and “phenotype” to study heredity. Much of what we know about genetics and behavior has evolved since then, especially how causality from genotypes can be inferred from observational studies of phenotypes. Unfortunately, there are genotypes that produce complex clinical‐behavioral phenotypes—pleiotropy. In addition, there are often many genotypes that produce the same phenotype, adding a layer of complexity in establishing valid genotype‐phenotype relationships. Unlike the relative simplicity of some phenotypes, behavioral phenotypes, es...
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Gene S. Fisch Tags: RESEARCH ARTICLE Source Type: research

Introduction to behavioral phenotypes in medical genetics
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - August 21, 2017 Category: Genetics & Stem Cells Authors: Gene S. Fisch Tags: INTRODUCTION Source Type: research

Publication schedule for 2017
(Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - June 16, 2017 Category: Genetics & Stem Cells Tags: ISSUE INFORMATION ‐PUBLICATION SCHEDULE Source Type: research