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Maria I Stamou, Petros Varnavas, Machi Kentrou, Fotini Adamidou, Antonis Voutetakis, Jenny Jing, Lacey Plummer, Vasiliki Koika, Neoklis A Georgopoulos
OBJECTIVE: Isolated GnRH Deficiency (IGD) is a rare heritable disorder characterized by phenotypic and genetic heterogeneity. The genetic complexity of IGD has been surfaced by analyzing clinically complex cases, structural genetic variation as well as endogamous familial cases and isolated populations, revealing an enrichment for particular genes/ pathways that reflects the homogeneous genetic background of such populations. DESIGN AND METHODS: We analyzed a cohort of 81 Greek IGD patients by performing detailed phenotyping, followed by Sanger Sequencing of 14 causative IGD genes...
November 24, 2016: European Journal of Endocrinology
Hyung Young Kim, Yoo-Mi Kim, Hee Ju Park
CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies/deafness) syndrome is a rare genetic disorder caused by CHD7 mutation and is related to immunodeficiency. A 6-month-old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T-, B+, NK-); however, CHD7 mutation was not detected...
November 22, 2016: Pediatric Pulmonology
Andre Wineland, Maithilee D Menezes, Joshua S Shimony, Marwan S Shinawi, Timothy E Hullar, Keiko Hirose
Importance: CHARGE syndrome refers to a syndrome involving coloboma, heart defects, atresia choanae, retardation of growth and development, genitourinary disorders, and ear anomalies. However, Verloes revised the characteristics of CHARGE syndrome in 2005 to define this syndrome more broadly. Deficiency of the semicircular canals is now a major criterion for CHARGE syndrome. Objective: To characterize patients with CHARGE syndrome at our center using Verloes' criteria and to reevaluate the nomenclature for this condition...
November 10, 2016: JAMA Otolaryngology—Head & Neck Surgery
Laura Whitton, Donna Cosgrove, Christopher Clarkson, Denise Harold, Kimberley Kendall, Alex Richards, Kiran Mantripragada, Michael J Owen, Michael C O'Donovan, James Walters, Annette Hartmann, Betina Konte, Dan Rujescu, Michael Gill, Aiden Corvin, Stephen Rea, Gary Donohoe, Derek W Morris
Epigenetic mechanisms are an important heritable and dynamic means of regulating various genomic functions, including gene expression, to orchestrate brain development, adult neurogenesis, and synaptic plasticity. These processes when perturbed are thought to contribute to schizophrenia pathophysiology. A core feature of schizophrenia is cognitive dysfunction. For genetic disorders where cognitive impairment is more severe such as intellectual disability, there are a disproportionally high number of genes involved in the epigenetic regulation of gene transcription...
December 2016: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
M Phan, F Conte, K D Khandelwal, C W Ockeloen, T Bartzela, T Kleefstra, H van Bokhoven, M Rubini, H Zhou, C E L Carels
Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia...
December 2016: Human Genetics
Gabrielle Freire, Laura Russell, Maryam Oskoui
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies, choanal atresia, retardation of growth and development, genital hypoplasia and ear anomalies/deafness now known to be caused by CHD7 mutations...
June 2013: Journal of Pediatric Genetics
Yi Chen, Mengyuan Wang, Demeng Chen, Jun Wang, Ning Kang
Mesenchymal stem cells (MSCs) have great therapeutic potential due to their abilities to self-renewal and their potential for differentiating into a variety of cell lineages. However, how to improve the differentiation efficiency of MSC into osteoblast remains a big challenge in the field of bone regenerative medicine. In current study, we identified a role of CHD7 in osteogenic differentiation of MSC. We showed that CHD7 expression in MSC could be induced by BMP2 or osteogenic induction medium. Depletion of CHD7 in MSC via siRNA knockdown resulted in inhibition of key osteogenic transcription factors and impaired osteogenic capability of MSC...
September 30, 2016: Biochemical and Biophysical Research Communications
Kyohei Fujita, Ryuhei Ogawa, Kazuo Ito
Neural crest-derived stem cells (NCSCs) are tissue-specific stem cells derived from multipotent neural crest cells. NCSCs are present in some adult tissues such as dorsal root ganglia, sciatic nerve, and bone marrow. However, little is known about the formation mechanisms of these cells. We have shown that BMP2/Wnt3a signaling and a chromatin remodeler, CHD7, in mice help to maintain the multipotency of neural crest cells and lead to the formation of NCSCs. In the present study, we analyzed a regulatory gene cascade in the formation of mouse NCSCs...
October 2016: FEBS Journal
G Bademci, F B Cengiz, J Foster Ii, D Duman, L Sennaroglu, O Diaz-Horta, T Atik, T Kirazli, L Olgun, H Alper, I Menendez, I Loclar, G Sennaroglu, S Tokgoz-Yilmaz, S Guo, Y Olgun, N Mahdieh, M Bonyadi, N Bozan, A Ayral, F Ozkinay, M Yildirim-Baylan, S H Blanton, M Tekin
The genetics of both syndromic (SHL) and non-syndromic hearing loss (NSHL) is characterized by a high degree of genetic heterogeneity. We analyzed whole exome sequencing data of 102 unrelated probands with apparently NSHL without a causative variant in known NSHL genes. We detected five causative variants in different SHL genes (SOX10, MITF, PTPN11, CHD7, and KMT2D) in five (4.9%) probands. Clinical re-evaluation of these probands shows that some of them have subtle syndromic findings, while none of them meets clinical criteria for the diagnosis of the associated syndrome (Waardenburg (SOX10 and MITF), Kallmann (CHD7 and SOX10), Noonan/LEOPARD (PTPN11), CHARGE (CHD7), or Kabuki (KMT2D)...
2016: Scientific Reports
Faruk Hadziselimovic, Katharina Gegenschatz-Schmid, Gilvydas Verkauskas, Maria J Docampo-Garcia, Philippe Demougin, Vytautas Bilius, Dalius Malcius, Darius Dasevicius, Michael B Stadtler
The whole genome RNA profiling of testicular biopsies by DNA strand-specific RNA sequencing was examined to determine a potential causative role of isolated congenital cryptorchidism in azoospermia and/or infertility in the context of our previously published GeneChip data. Cryptorchid patients, aged 7 months to 5 years and otherwise healthy, were enrolled in this prospective study. During surgery, testicular tissue biopsies were obtained for histological examination and RNA sequencing. Fifteen patients were selected based on the histological results and were divided into 2 groups...
2016: Sexual Development: Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation
Zainab Asad, Aditi Pandey, Aswini Babu, Yuhan Sun, Kaivalya Shevade, Shruti Kapoor, Ikram Ullah, Shashi Ranjan, Vinod Scaria, Ruchi Bajpai, Chetana Sachidanandan
CHD7 mutations are implicated in a majority of cases of the congenital disorder, CHARGE syndrome. CHARGE, an autosomal dominant syndrome, is known to affect multiple tissues including eye, heart, ear, craniofacial nerves and skeleton and genital organs. Using a morpholino-antisense-oligonucleotide-based zebrafish model for CHARGE syndrome, we uncover a complex spectrum of abnormalities in the neural crest and the crest-derived cell types. We report for the first time, defects in myelinating Schwann cells, enteric neurons and pigment cells in a CHARGE model...
July 13, 2016: Human Molecular Genetics
Nicole B Burger, Monique C Haak, Evelien Kok, Christianne J M de Groot, Weinian Shou, Peter J Scambler, Youngsook Lee, Eunjin Cho, Vincent M Christoffels, Mireille N Bekker
BACKGROUND: In human fetuses with cardiac defects and increased nuchal translucency, abnormal ductus venosus flow velocity waveforms are observed. It is unknown whether abnormal ductus venosus flow velocity waveforms in fetuses with increased nuchal translucency are a reflection of altered cardiac function or are caused by local morphological alterations in the ductus venosus. AIM: The aim of this study was to investigate if the observed increased nuchal translucency, cardiac defects and abnormal lymphatic development in the examined mouse models are associated with local changes in ductus venosus morphology...
October 2016: Early Human Development
Tomohiro Kohmoto, Miki Shono, Takuya Naruto, Miki Watanabe, Ken-Ichi Suga, Ryuji Nakagawa, Shoji Kagami, Kiyoshi Masuda, Issei Imoto
CHARGE syndrome is a rare autosomal dominant developmental disorder involving multiple organs. CHD7 is a major causative gene of CHARGE syndrome. We performed targeted-exome sequencing using a next-generation sequencer for molecular diagnosis of a 4-month-old male patient who was clinically suspected to have CHARGE syndrome, and report a novel monoallelic mutation in CHD7, NM_017780.3(CHD7_v001):c.2966del causing a reading frameshift [p.(Cys989Serfs*3)].
2016: Human Genome Variation
Tiffany Busa, Marine Legendre, Marie Bauge, Edwin Quarello, Florence Bretelle, Frederic Bilan, Sabine Sigaudy, Brigitte Gilbert-Dussardier, Nicole Philip
BACKGROUND: CHARGE syndrome is a multiple congenital anomaly syndrome caused by mutations in CHD7. Diagnostic criteria have been proposed to improve diagnosis in fetuses at clinicopathological survey, but no criteria exist for fetal diagnosis during pregnancy. METHOD: We collected prenatal findings of 12 children with CHARGE syndrome diagnosed in the first 3 months and a CHD7 mutation. We retrieved data on prenatal ultrasound (US) follow-up, fetal supplementary investigations, and results of postnatal evaluation...
June 2016: Prenatal Diagnosis
Caitlin L Hale, Adrienne N Niederriter, Glenn E Green, Donna M Martin
No abstract text is available yet for this article.
March 21, 2016: American Journal of Medical Genetics. Part A
Yanling Dong, Yuting Yi, Hong Yao, Ziying Yang, Huamei Hu, Jiucheng Liu, Changxin Gao, Ming Zhang, Liying Zhou, Asan, Xin Yi, Zhiqing Liang
BACKGROUND: The identification of causative mutations is important for treatment decisions and genetic counseling of patients with disorders of sex development (DSD). Here, we designed a new assay based on targeted next-generation sequencing (NGS) to diagnose these genetically heterogeneous disorders. METHODS: All coding regions and flanking sequences of 219 genes implicated in DSD were designed to be included on a panel. A total of 45 samples were used for sex chromosome dosage validation by targeted sequencing using the NGS platform...
2016: BMC Medical Genetics
O O Jarrett, K F Fasina
BACKGROUND: Charge syndrome is a rare genetic disorder that arises during early fetal development and affects multiple organ systems. Diagnosis is largely clinical. Mutation at the CHD7 gene located on Chromosome 8 has been identified in a great number of patients reviewed in different parts of the world. Survival depends on the intensity of the medical management as well as an early aggressive approach to the feeding adaptation in these children. CASE REPORT: We report a case of a 42 day old baby with clinical features in keeping with Charge syndrome...
June 2015: African Journal of Medicine and Medical Sciences
O Giray Bozkaya, E Ataman, C Randa, D Onur Cura, S Gürsoy, O Aksel, A Ulgenalp
The CHARGE (coloboma, heart defects, atresia, retardation, genital, ear) syndrome is a genetic disease characterized by ocular coloboma, choanal atresia or stenosis and semicircular canal abnormalities. Most of the patients clinically diagnosed with CHARGE syndrome have mutations in chromodomain helicase DNA-binding protein 7 (CHD7) gene. The CHD7 gene is located on chromosome 8q12.1, and up to now, there are more than 500 pathogenic mutations identified in the literature. We report two patients diagnosed with CHARGE syndrome with two novel mutations in the CHD7 gene: the first patient has double consecutive novel mutations in three adjacent codons, and the other has a novel insertion...
June 2015: Balkan Journal of Medical Genetics: BJMG
Danyang He, Corentine Marie, Chuntao Zhao, Bongwoo Kim, Jincheng Wang, Yaqi Deng, Adrien Clavairoly, Magali Frah, Haibo Wang, Xuelian He, Hatem Hmidan, Blaise V Jones, David Witte, Bernard Zalc, Xin Zhou, Daniel I Choo, Donna M Martin, Carlos Parras, Q Richard Lu
Mutations in CHD7, encoding ATP-dependent chromodomain helicase DNA-binding protein 7, in CHARGE syndrome lead to multiple congenital anomalies, including craniofacial malformations, neurological dysfunction and growth delay. Mechanisms underlying the CNS phenotypes remain poorly understood. We found that Chd7 is a direct transcriptional target of oligodendrogenesis-promoting factors Olig2 and Smarca4/Brg1 and is required for proper onset of CNS myelination and remyelination. Genome-occupancy analyses in mice, coupled with transcriptome profiling, revealed that Chd7 interacted with Sox10 and targeted the enhancers of key myelinogenic genes...
May 2016: Nature Neuroscience
Constance Wells, Natalie Loundon, Noël Garabedian, Sylvette Wiener-Vacher, Marie-Dominique Cordier-Bouvier, Géraldine Goudeffroye, Tania Attié-Bitach, Sandrine Marlin
CHARGE syndrome (MIM#214800) (Coloboma, Heart defect, Atresia of choanae, Retarded growth and development, Genital hypoplasia, Ear abnormalities/deafness) is caused by heterozygous mutation of CHD7 transmitted in an autosomal dominant manner. In this report, we describe a patient with bilateral hearing impairment, unusually-shaped ears, no intellectual disability and a patent ductus arteriosus. Further investigation showed abnormal semicircular canals and the presence of olfactory bulbs. He does not fulfill the Blake or the Verloes criteria for CHARGE...
April 2016: European Journal of Medical Genetics
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