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Clinical Genetics

Michael J Mitchell, Catherine Metzler-Guillemain, Toure Aminata, Charles Coutton, Christophe Arnoult, Pierre F Ray
Azoospermia, defined by the absence of sperm in the ejaculate, is estimated to affect up to 1% of men in the general population. Assisted reproductive technologies have revolutionized the treatment of infertility, and some azoospermic men, those with a post-meiotic defect, can conceive following the use of viable spermatoza recovered from testicular or epididymal biopsies. Although male infertility is a multifactorial disease, it is believed that genetic factors are predominant in the etiology of azoospermia and severe oligozoospermia...
October 25, 2016: Clinical Genetics
Katharina Wimmer, Thorsten Rosenbaum, Ludwine Messiaen
Constitutional mismatch repair (MMR) deficiency (CMMRD) is a rare childhood cancer susceptibility syndrome resulting from biallelic germline loss-of-function mutations in one of the MMR genes. Individuals with CMMRD have a high risk to develop a broad spectrum of malignancies and frequently display features reminiscent of neurofibromatosis type 1 (NF1). Evaluation of the clinical findings of genetically proven CMMRD patients shows that not only multiple café-au-lait macules but any of the diagnostic features of NF1 may be present in a CMMRD patient...
October 25, 2016: Clinical Genetics
Viney Gupta, Bindu I Somarajan, Shikha Gupta, Abadh Kishore Chaurasia, Sandip Kumar, Paromita Dutta, Vipin Gupta, Arundhati Sharma, Bamidele O Tayo, Ken Nischal
Juvenile onset open angle glaucoma affects patients before 40years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients (n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance...
October 25, 2016: Clinical Genetics
Pierre F Ray, Aminata Toure, Metzler-Guillemain, Michael J Mitchell, Christophe Arnoult, Charles Coutton
Infertility, defined by the inability of conceiving a child after one year is estimated to concern approximately 50 million couples worldwide. As the male gamete is readily accessible and can be studied by a simple spermogram it is easier to subcategorize male than female infertility. Subjects with a specific sperm phenotype are more likely to have a common origin thus facilitating the search for causal factors. Male infertility is believed to be often multifactorial and caused by both genetic and extrinsinc factors, but severe cases of male infertility are likely to have a predominant genetic etiology...
October 25, 2016: Clinical Genetics
Qingping Zhang, Jiarui Li, Ying Zhao, Xinhua Bao, Liping Wei, Jiaping Wang
To investigate the genetic characteristics and clinical features of a cohort of Chinese patients with early-onset epileptic encephalopathies (EOEEs). Targeted next-generation sequencing (NGS), focusing on 17 genes, was performed on 175 Chinese patients with EOEEs to screen gene mutations. The mutation rate was 32% (56/175). All mutations were de novo and heterozygous, including 41 novel and 15 reported mutations. Patients with cyclin-dependent kinase-like 5 (CDKL5) gene mutation accounted for the largest proportion-13...
October 25, 2016: Clinical Genetics
Salima El Chehadeh, Renaud Touraine, Fabienne Prieur, Willie Reardon, Thierry Bienvenu, Sandrine Chantot-Bastaraud, Martine Doco-Fenzy, Emilie Landais, Christophe Philippe, Nathalie Marle, Patrick Callier, Anne-Laure Mosca-Boidron, Francine Mugneret, Nathalie Le Meur, Alice Goldenberg, Anne-Marie Guerrot, Pascal Chambon, Véronique Satre, Charles Coutton, Pierre-Simon Jouk, Françoise Devillard, Klaus Dieterich, Alexandra Afenjar, Lydie Burglen, Marie-Laure Moutard, Marie-Claude Addor, Sébastien Lebon, Danielle Martinet, Jean-Luc Alessandri, Bérénice Doray, Marguerite Miguet, Didier Devys, Pascale Saugier-Veber, Séverine Drunat, Bernard Aral, Valérie Kremer, Stéphane Rondeau, Anne-Claude Tabet, Julien Thevenon, Christel Thauvin-Robinet, Nathalie Perreton, Vincent Des Portes, Laurence Faivre
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling...
October 19, 2016: Clinical Genetics
Bruno Borghese, Krina T Zondervan, Mauricio S Abrao, Charles Chapron, Daniel Vaiman
Endometriosis is a gynecologic disease affecting up to 10% of the women and a major cause of pain and infertility. It is characterized by the implantation of functional endometrial tissue at ectopic positions generally within the peritoneum. This complex disease has an important genetic component with a heritability estimated at around 50%. This review aims at providing recent insights into the genetic bases of endometriosis, and present a detailed overview of evidence of epigenetic alterations specific to this disease...
October 18, 2016: Clinical Genetics
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Leigh A M Demain, Gerard S Conway, William G Newman
Increasingly, mitochondria are being recognised as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be under-reported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial DNA or in mitochondrial translation...
October 17, 2016: Clinical Genetics
H A Sawal, R Harripaul, A Mikhailov, R Dad, M Ayub, M Jawad Hassan, J B Vincent
(a) Homozygosity-mapping-by-descent of four Bhakkar congenital indifference/insensitivity to pain (CIP) families. (b) Identification of mutation Met1190* in SCN9A. (c) SCN9A/NaV1.7 2D structure (as predicted by CCTOP and SMART) and approximate position of known nonsense (*) and missense (M) mutations (, as well as the Bhakkar mutation (this study) in red.
October 17, 2016: Clinical Genetics
Hongzheng Dai, Victor Wei Zhang, Ayman W El-Hattab, Can Ficicioglu, Marwan Shinawi, Matthew Lines, Andreas Schulze, Markey McNutt, Garret Gotway, Xia Tian, Stella Chen, Jing Wang, William J Craigen, Lee-Jun Wong
Mutations in FBXL4 have recently been recognized to cause a mitochondrial disorder, with clinical features including early-onset lactic acidosis, hypotonia, and developmental delay. FBXL4 sequence analysis was performed in 808 subjects suspected to have a mitochondrial disorder. In addition, 28 samples from patients with early onset of lactic acidosis, but without identifiable mutations in 192 genes known to cause mitochondrial diseases, were examined for FBXL4 mutations. Definitive diagnosis was made in ten new subjects with a total of seven novel deleterious variants; five null and two missense substitutions...
October 15, 2016: Clinical Genetics
Stephanie Kletke, Vaishnavi Batmanabane, Tianyang Dai, Ajoy Vincent, Shuning Li, Karen A Gordon, Blake C Papsin, Sharon L Cushing, Elise Héon
The co-occurrence of hearing impairment and visual dysfunction is devastating. Most deaf-blind etiologies are genetically determined, the commonest being Usher syndrome (USH). While studies of the congenitally deaf population reveal a variable degree of visual problems, there are no effective ophthalmic screening guidelines. We hypothesized that children with congenital sensorineural hearing loss (SNHL) and vestibular impairment were at an increased risk of having Usher syndrome. A retrospective chart review of 33 cochlear implants recipients for severe to profound SNHL and measured vestibular dysfunction was done to determine the ocular phenotype...
October 15, 2016: Clinical Genetics
Kimberly A Quaid, Shirley W Eberly, Elise Kayson-Rubin, David Oakes, Ira Shoulson
Huntington disease (HD) is a late onset ultimately fatal neurodegenerative disorder caused by a CAG triplet repeat expansion in the Huntingtin gene which was discovered in 1993. The PHAROS study is a unique observational study of 1001 individuals at risk for HD who had not been previously tested for HD and who had no plans to do so. In this cohort, 104 (10%) individuals changed their minds and chose to be tested during the course of the study but outside of the study protocol. Baseline behavioral scores, especially apathy, were more strongly associated with later genetic testing than motor and chorea scores, particularly among subjects with expanded CAG repeat length...
October 14, 2016: Clinical Genetics
S Maddirevula, S Coskun, K Awartani, H Alsaif, F M Abdulwahab, F S Alkuraya
No abstract text is available yet for this article.
October 12, 2016: Clinical Genetics
M V Zaragoza, S A Hakim, V Hoang, A M Elliott
No abstract text is available yet for this article.
October 10, 2016: Clinical Genetics
Kristin D Kernohan, Arran McBride, Yanwei Xi, Nicole Martin, Jeremy Schwartzentruber, David A Dyment, Jacek Majewski, Susan Blaser, Kym M Boycott, David Chitayat
Post translational protein modifications exponentially expand the functional complement of proteins encoded by the human genome. One such modification is the covalent addition of a methyl group to arginine or lysine residues, which is used to regulate a substantial proportion of the proteome. Arginine and lysine methylation are catalyzed by protein arginine methyltransferase (PRMTs) and protein lysine methyltransferase proteins (PKMTs), respectively; each methyltransferase has a specific set of target substrates...
October 8, 2016: Clinical Genetics
Laura Fontana, Barbara Gentilin, Luigi Fedele, Cristina Gervasini, Monica Miozzo
Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, also referred to as Müllerian agenesis, is the second most common cause of primary amenorrhea. It is characterized by congenital absence of the uterus, cervix, and the upper part of the vagina in otherwise phenotypically normal 46,XX females. MRKH syndrome has an incidence of about 1 in 4,500-5,000 newborn females and it is generally divided into two subtypes: MRKH type 1, in which only the upper vagina, cervix and the uterus are affected, and MRKH type 2, which is associated with additional malformations generally affecting the renal and skeletal systems, and also includes MURCS (MÜllerian Renal Cervical Somite) characterized by cervico-thoracic defects...
October 7, 2016: Clinical Genetics
Remko Hersmus, Yolande van Bever, Katja P Wolffenbuttel, Katharina Biermann, Martine Cools, Leendert H J Looijenga
Development of a malignant germ cell tumor, i.e., germ cell cancer (GCC) in individuals with disorders of sex development (DSD) depends on a number of (epi-)genetic factors related to early gonadal- and germ cell development, possibly related to genetic susceptibility. Fetal development of germ cells is orchestrated by strict processes involving specification, migration and the development of a proper gonadal niche. In this review we will discuss the early (epi-)genetic events in normal and aberrant germ cell and gonadal development...
October 7, 2016: Clinical Genetics
Chunxiang Fan, Ninghui Mao, Frank Lehmann-Horn, Jan Bürmann, Karin Jurkat-Rott
Hyperkalemic periodic paralysis (HyperPP) is a dominantly inherited muscle disease caused by mutations in SCN4A gene encoding skeletal muscle voltage gated Nav 1.4 channels. We identified a novel Nav 1.4 mutation I692M in 14 families out of the 104 genetically identified HyperPP families in the Neuromuscular Centre Ulm and is therefore as frequent as I693T (13 families out of 14 HyperPP families) in Germany. Surprisingly, in 13 families, a known polymorphism S906T was also present. It was on the affected allele in at least 10 families compatible with a possible founder effect in central Europe...
October 6, 2016: Clinical Genetics
Mohamed Zaiou, Hamid El Amri
Cardiovascular disease (CVD) is the leading cause of death worldwide. The basic causes of CVD are not fully understood yet. Substantial evidence suggests that genetic predisposition plays a vital role in the physiopathology of this complex disease. Hence, identification of genetic contributors to CVD will likely add diagnostic accuracy and better prediction of an individual's risk. With high-throughput genetics and genomics technology and newer genome-wide study approaches, a number of genetic variations across the human genome were uncovered...
October 6, 2016: Clinical Genetics
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