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identified genetic anomalys

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https://www.readbyqxmd.com/read/29140751/further-delineation-of-the-oculoauricular-syndrome-phenotype-a-new-family-with-a-novel-truncating-hmx1-mutation
#1
Ghada M H Abdel-Salam, Mohamed S Abdel-Hamid, Mennat I Mehrez, Ahmad M Kamal, Mohamed B Taher, Hanan H Afifi
Biallelic HMX1 mutations cause a very rare autosomal recessive genetic disorder termed as oculoauricular syndrome (OAS) because it is characterized only by the combination of eye and ear anomalies. We identified a new family bringing to three the total families reported with this disorder. Our proband presented with anteriorly protruded ears and malformed ear pinnae in association with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. Additionally, he had high and broad forehead with asymmetry giving a recognizable facial gestalt...
November 15, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29137034/uniparental-disomy-and-prenatal-phenotype-two-case-reports-and-review
#2
Xiaofei Li, Yan Liu, Song Yue, Li Wang, Tiejuan Zhang, Cuixia Guo, Wenjie Hu, Karl-Oliver Kagan, Qingqing Wu
RATIONALE: Uniparental disomy (UPD) gives a description of the inheritance of both homologues of a chromosome pair from the same parent. The consequences of UPD depend on the specific chromosome/segment involved and its parental origin. PATIENT CONCERNS: We report prenatal phenotypes of 2 rare cases of UPD. DIAGNOSES: The prenatal phenotype of case 1 included sonographic markers such as enlarged nuchal translucency (NT), absent nasal bone, short femur and humerus length, and several structural malformations involving Dandy-Walker malformation and congenital heart defects...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29136273/foxe3-mutations-genotype-phenotype-correlations
#3
J Plaisancié, N K Ragge, H Dollfus, J Kaplan, D Lehalle, C Francannet, G Morin, H Colineaux, P Calvas, N Chassaing
Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Amongst these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. In this work, we describe 8 individuals presenting with a MA phenotype...
November 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#4
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130490/sequence-variants-in-nine-different-genes-underlying-rare-skin-disorders-in-10-consanguineous-families
#5
Khadim Shah, Sabba Mehmood, Abid Jan, Izoduwa Abbe, Raja Hussain Ali, Anwar Khan, Muhammad S Chishti, Kwanghyuk Lee, Farooq Ahmad, Muhammad Ansar, Shaheen Shahzad, Deborah A Nickerson, Michael J Bamshad, Paul J Coucke, Regie L P Santos-Cortez, Richard A Spritz, Suzanne M Leal, Wasim Ahmad
BACKGROUND: Genodermatoses represent genetic anomalies of skin tissues including hair follicles, sebaceous glands, eccrine glands, nails, and teeth. Ten consanguineous families segregating various genodermatosis phenotypes were investigated in the present study. METHODS: Homozygosity mapping, exome, and Sanger sequencing were employed to search for the disease-causing variants in the 10 families. RESULTS: Exome sequencing identified seven homozygous sequence variants in different families, including: c...
December 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/29127258/homozygous-mutation-in-cep19-a-gene-mutated-in-morbid-obesity-in-bardet-biedl-syndrome-with-predominant-postaxial-polydactyly
#6
Esra Yıldız Bölükbaşı, Sara Mumtaz, Muhammad Afzal, Ute Woehlbier, Sajid Malik, Aslıhan Tolun
BACKGROUND: Bardet-Biedl syndrome (BBS) is a ciliopathy with extensive phenotypic variability and genetic heterogeneity. We aimed to discover the gene mutated in a consanguineous kindred with multiple cases of a BBS phenotype. METHODS: SNP genotype data were used for linkage analysis and exome sequencing to identify mutations. Modelling and in silico analysis were performed to predict mutation severity. RESULTS: Patients had postaxial polydactyly plus variable other clinical features including rod-cone dystrophy, obesity, intellectual disability, renal malformation, developmental delay, dental anomalies, speech disorder and enlarged fatty liver...
November 10, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29122926/defect-in-phosphoinositide-signalling-through-a-homozygous-variant-in-plcb3-causes-a-new-form-of-spondylometaphyseal-dysplasia-with-corneal-dystrophy
#7
Salma Ben-Salem, Sarah M Robbins, Nara Lm Sobreira, Angeline Lyon, Aisha M Al-Shamsi, Barira K Islam, Nadia A Akawi, Anne John, Pramathan Thachillath, Sania Al Hamed, David Valle, Bassam R Ali, Lihadh Al-Gazali
BACKGROUND: Bone dysplasias are a large group of disorders affecting the growth and structure of the skeletal system. METHODS: In the present study, we report the clinical and molecular delineation of a new form of syndromic autosomal recessive spondylometaphyseal dysplasia (SMD) in two Emirati first cousins. They displayed postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, radiological abnormalities involving the spine, pelvis and metaphyses, corneal clouding and intellectual disability...
November 9, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/29121437/a-novel-pitx2-mutation-in-non-syndromic-oro-dental-anomalies
#8
Narin Intarak, Thanakorn Theerapanon, Chupong Ittiwut, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk
OBJECTIVE: To identify oro-dental characteristics and genetic etiology of a family affected with non-syndromic oro-dental anomalies. SUBJECTS AND METHODS: Physical and oral features were characterised. DNA was collected from an affected Thai family. Whole exome sequencing was employed to identify the pathogenic variants associated with inherited oro-dental anomalies. The presence of the identified mutation was confirmed by Sanger sequencing. RESULTS: We observed unique oro-dental manifestations including oligodontia, retained primary teeth, taurodont molars, peg-shaped maxillary central incisors, high attached frenum with nodule, and midline diastema in the proband and her mother...
November 9, 2017: Oral Diseases
https://www.readbyqxmd.com/read/29114930/pediatric-diamond-blackfan-anemia-in-the-netherlands-an-overview-of-clinical-characteristics-and-underlying-molecular-defects
#9
B van Dooijeweert, C H van Ommen, F J Smiers, R Y J Tamminga, M W Te Loo, A E Donker, M Peters, B Granzen, J J P Gille, M B Bierings, A W MacInnes, M Bartels
INTRODUCTION: Diamond-Blackfan anemia (DBA) is characterized by hypoplastic anemia, congenital anomalies, and a predisposition for malignancies. Most of our understanding of this disorder stems from molecular studies combined with extensive data input from international patient registries. OBJECTIVES: To create an overview of the pediatric DBA population in the Netherlands. METHODS: Forty-three patients diagnosed with DBA from all Dutch university pediatric hospitals were included in this study and their clinical and genetic characteristics were collected from patient records...
November 7, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/29114927/genetic-study-of-non-syndromic-tooth-agenesis-through-the-screening-of-paired-box-9-msh-homeobox-1-axin-2-and-wnt-family-member-10a-genes-a-case-series
#10
Marwa Haddaji Mastouri, Peter De Coster, Aicha Zaghabani, Frej Jammali, Nabiha Raouahi, Amina Ben Salem, Ali Saad, Paul Coucke, Dorra H'mida Ben Brahim
Non-syndromic tooth agenesis (NSTA) is the most common developmental anomaly in humans. Several studies have been conducted on dental agenesis and numerous genes have been identified. However, the pathogenic mechanisms responsible for NSTA are not clearly understood. We studied a group of 28 patients with sporadic NSTA and nine patients with a family history of tooth agenesis. We focused on four genes - paired box 9 (PAX9), Wnt family member 10A (WNT10A), msh homeobox 1 (MSX1), and axin 2 (AXIN2) - using direct Sanger sequencing of the exons and intron-exon boundaries...
November 8, 2017: European Journal of Oral Sciences
https://www.readbyqxmd.com/read/29103563/genetic-testing-as-a-tool-to-identify-horses-with-or-at-risk-for-ocular-disorders
#11
REVIEW
Rebecca R Bellone
Advances in equine genetics and genomics resources have enabled the understanding of some inherited ocular disorders and ocular manifestations. These ocular disorders include congenital stationary night blindness, equine recurrent uveitis, multiple congenital ocular anomalies, and squamous cell carcinoma. Genetic testing can identify horses with or at risk for disease and thus can assist in clinical management. In addition, genetic testing can identify horses that are carriers and thus can inform breeding decisions...
December 2017: Veterinary Clinics of North America. Equine Practice
https://www.readbyqxmd.com/read/29097723/genome-wide-linkage-and-association-study-implicates-the-10q26-region-as-a-major-genetic-contributor-to-primary-nonsyndromic-vesicoureteric-reflux
#12
John M Darlow, Rebecca Darlay, Mark G Dobson, Aisling Stewart, Pimphen Charoen, Jennifer Southgate, Simon C Baker, Yaobo Xu, Manuela Hunziker, Heather J Lambert, Andrew J Green, Mauro Santibanez-Koref, John A Sayer, Timothy H J Goodship, Prem Puri, Adrian S Woolf, Rajko B Kenda, David E Barton, Heather J Cordell
Vesicoureteric reflux (VUR) is the commonest urological anomaly in children. Despite treatment improvements, associated renal lesions - congenital dysplasia, acquired scarring or both - are a common cause of childhood hypertension and renal failure. Primary VUR is familial, with transmission rate and sibling risk both approaching 50%, and appears highly genetically heterogeneous. It is often associated with other developmental anomalies of the urinary tract, emphasising its etiology as a disorder of urogenital tract development...
November 6, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29094201/a-review-of-genetic-factors-contributing-to-the-etiopathogenesis-of-anorectal-malformations
#13
REVIEW
Kashish Khanna, Shilpa Sharma, Noel Pabalan, Neetu Singh, D K Gupta
BACKGROUND: Anorectal malformation (ARM) is a common congenital anomaly with a wide clinical spectrum. Recently, many genetic and molecular studies have been conducted worldwide highlighting the contribution of genetic factors in its etiology. We summarize the current literature on such genetic factors. MATERIALS AND METHODS: Literature search was done using different combinations of terms related to genetics in anorectal malformations. From 2012 to June 2017, articles published in the English literature and studies conducted on human population were included...
November 1, 2017: Pediatric Surgery International
https://www.readbyqxmd.com/read/29079659/novel-insights-into-the-pathogenesis-of-monogenic-congenital-anomalies-of-the-kidney-and-urinary-tract
#14
Amelie T van der Ven, Asaf Vivante, Friedhelm Hildebrandt
Congenital anomalies of the kidneys and urinary tract (CAKUT) comprise a large spectrum of congenital malformations ranging from severe manifestations, such as renal agenesis, to potentially milder conditions, such as vesicoureteral reflux. CAKUT causes approximately 40% of ESRD that manifests within the first three decades of life. Several lines of evidence indicate that CAKUT is often caused by recessive or dominant mutations in single (monogenic) genes. To date, approximately 40 monogenic genes are known to cause CAKUT if mutated, explaining 5%-20% of patients...
October 27, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29046692/a-patient-with-van-maldergem-syndrome-with-endocrine-abnormalities-hypogonadotropic-hypogonadism-and-breast-aplasia-hypoplasia
#15
Juan Sotos, Katherine Miller, Donald Corsmeier, Naomi Tokar, Benjamin Kelly, Vijay Nadella, Huachun Zhong, Amy Wetzel, Brent Adler, Chack-Yung Yu, Peter White
BACKGROUND: We report a female patient with endocrine abnormalities, hypogonadotropic hypogonadism and amazia (breasts aplasia/hypoplasia but normal nipples and areolas) in a rare syndrome: Van Maldergem syndrome (VMS). CASE PRESENTATION: Our patient was first evaluated at age 4 for intellectual disability, craniofacial features, and auditory malformations. At age 15, she presented with no breast development and other findings consistent with hypogonadotropic hypogonadism...
2017: International Journal of Pediatric Endocrinology
https://www.readbyqxmd.com/read/29033291/controversies-in-poland-syndrome-alternative-diagnoses-in-patients-with-congenital-pectoral-muscle-deficiency
#16
Martijn Baas, Elise B Burger, Dimitri Sneiders, Robert-Jan H Galjaard, Steven E R Hovius, Christianne A van Nieuwenhoven
PURPOSE: Poland syndrome was first described as a deficiency of the pectoral muscle with ipsilateral symbrachydactyly. Currently, numerous case reports describe variations of Poland syndrome in which pectoral muscle deficiency is often used as the only defining criterion. However, more syndromes can present with pectoral muscle deficiency. The aim of this review is to illustrate the diversity of the phenotypic spectrum of Poland syndrome and to create more awareness for alternative diagnoses in pectoral muscle deficiency...
October 13, 2017: Journal of Hand Surgery
https://www.readbyqxmd.com/read/29025195/chromosomal-and-subchromosomal-anomalies-associated-to-small-for-gestational-age-fetuses-with-no-additional-structural-anomalies
#17
Ruan Peng, Yi Zhou, Hong-Ning Xie, Mei-Fang Lin, Ju Zheng
OBJECTIVES: To assess the chromosomal and subchromosomal anomalies in small for gestational age (SGA) fetuses with no additional structural anomalies and their clinical outcomes. METHODS: This study retrospectively reviewed the 128 SGA fetuses with no additional anomalies and underwent genetic testing with karyotyping and chromosomal microarray analysis (CMA). Stratified analysis was performed according to the existence of maternal risk factors for SGA (yes or no), gestational age at onset (before or after 32 weeks), presence of oligohydraminos (yes or no) and umbilical artery (UA) Doppler flow (normal or abnormal)...
October 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28992378/grem2-nucleotide-variants-and-the-risk-of-tooth-agenesis
#18
Adrianna Mostowska, Barbara Biedziak, Małgorzata Zadurska, Agnieszka Bogdanowicz, Aneta Olszewska, Katarzyna Cieślińska, Ewa Firlej, Paweł P Jagodziński
OBJECTIVE: The etiology of tooth agenesis is multifactorial and still not fully understood. The aim of the study was to test whether variants of GREM2, encoding a BMP antagonist, are associated with the risk of this common dental anomaly in a Polish population. SUBJECTS AND METHODS: Direct sequencing of the GREM2 coding sequence including exon/intron boundaries was performed in 95 patients with both hypodontia and oligodontia. All identified GREM2 variants were then further tested in an independent group of patients (n=163) and controls (n=184)...
October 9, 2017: Oral Diseases
https://www.readbyqxmd.com/read/28985029/a-variant-associated-with-sagittal-nonsyndromic-craniosynostosis-alters-the-regulatory-function-of-a-non-coding-element
#19
Cristina M Justice, Jinoh Kim, Sun-Don Kim, Kyunhgho Kim, Garima Yagnik, Araceli Cuellar, Blake Carrington, Chung-Ling Lu, Raman Sood, Simeon A Boyadjiev, Alexander F Wilson
Craniosynostosis presents either as a nonsyndromic congenital anomaly or as a finding in nearly 200 genetic syndromes. Our previous genome-wide association study of sagittal nonsyndromic craniosynostosis identified associations with variants downstream from BMP2 and intronic in BBS9. Because no coding variants in BMP2 were identified, we hypothesized that conserved non-coding regulatory elements may alter BMP2 expression. In order to identify and characterize noncoding regulatory elements near BMP2, two conserved noncoding regions near the associated region on chromosome 20 were tested for regulatory activity with a Renilla luciferase assay...
November 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28981937/-application-of-chromosomal-microarray-analysis-for-fetuses-with-ventricular-septal-defects
#20
Qiong Deng, Fang Fu, Ru Li, Xiangyi Jing, Tingying Lei, Xin Yang, Min Pan, Li Zhen, Jin Han, Can Liao
OBJECTIVE: To explore the genetic etiology of fetuses with ventricular septal defects (VSD) using chromosomal microarray analysis (CMA). METHODS: A total of 248 fetuses were divided into isolated VSD group, VSD with other cardiac and/or great vessels malformation group, VSD with extra-cardiac anomalies group (including malformation and sonographic soft markers), and VSD with both cardiac and extra-cardiac anomalies group. Standard karyotyping was carried out for all fetuses, and CMA was performed for 6 fetuses with an abnormal karyotype and a proportion of fetuses with a normal karyotype...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
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