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Clinical Genetics

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https://www.readbyqxmd.com/read/28321846/molecular-analysis-of-patients-with-aniridia-in-russian-federation-broadens-the-spectrum-of-pax6-mutations
#1
Tatyana A Vasilyeva, Anna A Voskresenskaya, Barbara Käsmann-Kellner, Olga V Khlebnikova, Nadezhda A Pozdeyeva, Gulnara M Bayazutdinova, Sergey I Kutsev, Evgeny K Ginter, Elena V Semina, Andrey V Marakhonov, Rena A Zinchenko
Congenital aniridia is a severe autosomal dominant congenital panocular disorder, mainly associated with pathogenic variants in the PAX6 gene. The objective of the study was to investigate the mutational and clinical spectra of congenital aniridia in a cohort of 117 patients from Russia. Each patient underwent detailed ophthalmological examination. From 91 unrelated families, 110 patients were diagnosed with congenital aniridia and 7 with WAGR syndrome. The clinical presentation in aniridia patients varied from the complete bilateral absence of the iris (75...
March 21, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28317102/a-duplication-in-a-patient-with-46-xx-ovo-testicular-disorder-of-sex-development-refines-the-sox9-testis-specific-regulatory-region-to-24%C3%A2-kb
#2
LETTER
T Ohnesorg, J A van den Bergen, D Belluoccio, N Shankara-Narayana, A-M Kean, A Vasilaras, L Ewans, K L Ayers, A H Sinclair
A custom CGH microarray that covers the SOX9 regulatory region. Log2 ratio scatterplot showing individual data points. Blue box highlights copy number gain with 3' breakpoint region magnified.
March 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28317099/mutations-in-ergic1-cause-arthrogryposis-multiplex-congenita-neuropathic-type
#3
Eyal Reinstein, Valerie Dersinover, Rona Lotan, Meital Gal-Tanhami, Inbal Bulokin Nachman, Eran Eyal, Jaber Lutfi, Nurit Magal, Mordechai Shohat
Arthrogryposis multiplex congenita (AMC) is heterogeneous group of disorders characterized by non-progressive joint contractures from birth that involve more than one part of the body. There are various etiologies for AMC including genetic and environmental depends on the specific type, however, for most types, the cause is not fully understood. We previously reported large Israeli Arab kindred consisting of 16 patients affected with AMC neuropathic type, and mapped the locus to a 5.5 cM interval on chromosome 5qter...
March 19, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28303571/deletion-of-the-transcription-factor-sox4-is-implicated-in-syndromic-nephroblastoma
#4
LETTER
A Trimouille, E Barouk-Simonet, S Charron, J Bouron, J-C Bernhard, D Lacombe, P Fergelot, C Rooryck
No abstract text is available yet for this article.
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#5
Marie Muller, Sophie Ferlicot, Marine Guillaud-Bataille, Gwénaël Le Teuff, Catherine Genestie, Sophie Deveaux, Abdelhamid Slama, Nicolas Poulalhon, Bernard Escudier, Laurence Albiges, Nadem Soufir, Marie-Françoise Avril, Betty Gardie, Carolina Saldana, Yves Allory, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de Paillerets, Stéphane Richard, Patrick R Benusiglio
We addressed uncertainties regarding Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate Hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295212/constitutional-lztr1-mutation-presenting-with-a-unilateral-vestibular-schwannoma-in-a-teenager
#6
Karen W Gripp, Laura Baker, Vinay Kandula, Joseph Piatt, Andrew Walter, Zhenbin Chen, Ludwine Messiaen
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295210/cnvs-analysis-in-a-cohort-of-isolated-and-syndromic-dd-id-reveals-novel-genomic-disorders-position-effects-and-candidate-disease-genes
#7
Eleonora Di Gregorio, Evelise Riberi, Elga Fabia Belligni, Elisa Biamino, Malte Spielmann, Ugo Ala, Alessandro Calcia, Irene Bagnasco, Diana Carli, Giorgia Gai, Mara Giordano, Andrea Guala, Roberto Keller, Giorgia Mandrile, Carlo Arduino, Antonella Maffè, Valeria Giorgia Naretto, Fabio Sirchia, Lorena Sorasio, Silvana Ungari, Andrea Zonta, Giulia Zacchetti, Flavia Talarico, Patrizia Pappi, Simona Cavalieri, Elisa Giorgio, Cecilia Mancini, Marta Ferrero, Alessandro Brussino, Elisa Savin, Marina Gandione, Alessandra Pelle, Daniela Francesca Giachino, Mario De Marchi, Gabriella Restagno, Paolo Provero, Margherita Cirillo Silengo, Enrico Grosso, Joseph D Buxbaum, Barbara Pasini, Silvia De Rubeis, Alfredo Brusco, Giovanni Battista Ferrero
Array-comparative genomic hybridization (array-CGH) is a widely used technique to detect Copy Number Variants (CNVs) associated with developmental delay/intellectual disability (DD/ID). We performed a comprehensive array-CGH investigation of 1,015 consecutive cases with DD/ID and combined literature mining, genetic evidence, evolutionary constraint scores, and functional information in order to assess the pathogenicity of the CNVs. We identified non-benign CNVs in 29% of patients. Amongst the pathogenic variants (11%), detected with a yield consistent with the literature, we found rare genomic disorders and CNVs spanning known disease genes...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295209/a-nonsense-mutation-in-cep55-defines-a-new-locus-for-a-meckel-like-syndrome-an-autosomal-recessive-lethal-fetal-ciliopathy
#8
Marie-Louise Bondeson, Katharina Ericson, Sanna Gudmundsson, Adam Ameur, Fredrik Pontén, Jan Wesström, Carina Frykholm, Maria Wilbe
Mutations in genes involved in the cilium-centrosome complex are called ciliopathies. Meckel-Gruber syndrome (MKS) is a ciliopathic lethal autosomal recessive syndrome characterized by genetically and clinically heterogeneous manifestations, including renal cystic dysplasia, occipital encephalocele and polydactyly. Several genes have previously been associated with MKS and MKS-like phenotypes, but there are still genes remaining to be discovered. We have used whole exome sequencing (WES) to uncover the genetics of a suspected autosomal recessive Meckel syndrome phenotype in a family with two affected fetuses...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295206/molecular-clinical-and-neuropsychological-study-in-31-patients-with-kabuki-syndrome-and-kmt2d-mutations
#9
Natacha Lehman, Anne Claire Mazery, Antoine Visier, Clarisse Baumann, Dominique Lachesnais, Yline Capri, Annick Toutain, Sylvie Odent, Myriam Mikaty, Cyril Goizet, Emmanuelle Taupiac, Marie Line Jacquemont, Elodie Sanchez, Elise Schaefer, Vincent Gatinois, Laurence Faivre, Delphine Minot, Honorine Kayirangwa, Kim-Hanh Le Qang Sang, Nathalie Boddaert, Sophie Bayard, Didier Lacombe, Sébastien Moutton, Isabelle Touitou, Marlène Rio, Jeanne Amiel, Stanislas Lyonnet, Damien Sanlaville, Marie Christine Picot, David Geneviève
Kabuki syndrome (KS - OMIM 147920) is a rare developmental disease characterized by the association of multiple congenital anomalies and intellectual disability. This study aimed to investigate intellectual performance in children with Kabuki syndrome and link the performance to several clinical features and molecular data. We recruited 31 children with KMT2D mutations who were 6 to 16 years old. They all completed the Weschler Intelligence Scale for Children, fourth edition. We calculated all indexes: the Full Scale Intellectual Quotient (FSIQ), Verbal Comprehension Index (VCI), Perceptive Reasoning Index (PRI), Processing Speed Index (PSI), and Working Memory Index (WMI)...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28295203/pla2g6-mutations-associated-with-a-continuous-clinical-spectrum-from-neuroaxonal-dystrophy-to-hereditary-spastic-paraplegia
#10
Burcak Ozes, Nazan Karagoz, Rebecca Schüle, Adriana Rebelo, María-Jesús Sobrido, Florian Harmuth, Matthis Synofzik, Samuel Ignacio Pascual Pascual, Melek Colak, Beyza Ciftci-Kavaklioglu, Batuhan Kara, Andrés Ordóñez-Ugalde, Beatriz Quintáns, Michael A Gonzalez, Aysun Soysal, Stephan Zuchner, Esra Battaloglu
PLA2G6-associated neurodegeneration (PLAN) and hereditary spastic paraplegia (HSP) are two groups of heterogeneous neurodegenerative diseases. In this study, we report PLA2G6 gene mutations in three families from Turkey, Morocco, and Romania. Two affected Turkish siblings presenting HSP adds the disease to PLAN phenotypes. They were homozygous for the PLA2G6 missense c.2239C>T, p.Arg747Trp variant and the ages of onset were 9 and 21. Parkinsonism, dystonia or cognitive decline were not the clinical elements in these patients contrary to the cases that has been previously reported with the same variant, however, iron accumulation was evident in their cranial MRI...
March 13, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28276057/the-mutation-p-d313y-is-associated-with-organ-manifestation-in-fabry-disease
#11
M du Moulin, A F Koehn, A Golsari, S Dulz, Y Atiskova, M Patten, J Münch, M Avanesov, K Ullrich, N Muschol
Fabry disease is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was done in all our patients carrying the p.D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with Fabry disease could be identified in 10 patients...
March 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28276056/second-family-provides-further-evidence-for-causation-of-steel-syndrome-by-biallelic-mutations-in-col27a1
#12
Shalini Kotabagi, Hitesh Shah, Anju Shukla, Katta M Girisha
Steel syndrome is a rare disorder of the skeleton characterized by facial dysmorphism, short stature, carpal coalition, dislocated radial heads, bilateral hip dislocation and vertical talus. Homozygous variants in COL27A1 was reported in an extending family from Puerto Rico. Here, we report a five years-old girl from a non-consanguineous family with facial dysmorphism, short stature, carpal coalition, dislocation of radial heads, bilateral hip dislocation, scoliosis and vertical talus. Exome sequencing identified two novel compound heterozygous variants c...
March 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28266016/clinical-and-mutation-analysis-of-24-chinese-patients-with-ornithine-transcarbamylase-deficiency
#13
Yongxian Shao, Minyan Jiang, Yunting Lin, Huifen Mei, Wen Zhang, Yanna Cai, Xueying Shu, Hao Hu, Xiuzhen Li, Li Liu
The principal aim of this study was to examine the clinical manifestations, biochemical features, and molecular genetic characteristics of Chinese patients with ornithine transcarbamylase deficiency (OTCD) at a single medical center. We retrospectively analyzed 24 patients (17 males and 7 females) diagnosed with OTCD between 2006 and 2015. Five male patients had a neonatal presentation; 12 male patients had late onset disease and 7 female patients presented as symptomatic. Patients with a neonatal presentation had the highest peak plasma ammonia and glutamine levels at diagnosis with a high mortality (80% versus 16% in late onset disease)...
March 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28266014/snord116-deletions-cause-prader-willi-syndrome-with-a-mild-phenotype-and-macrocephaly
#14
Paolo Fontana, Marina Grasso, Fabio Acquaviva, Elena Gennaro, Maria Laura Galli, Mariateresa Falco, Francesca Scarano, Gioacchino Scarano, Fortunato Lonardo
Prader-Willi syndrome is a complex condition caused by lack of expression of imprinted genes in the paternally derived region of chromosome 15 (15q11q13). A small number of patients with Prader-Willi phenotype have been discovered to have narrow deletions, not encompassing the whole critical region, but only the SNORD116 cluster, which includes genes codifying for small nucleolar RNAs. This kind of deletion usually is not detected by the classic DNA methylation analysis test. We present the case of a male patient with a mild Prader-Willi phenotype and a small deletion including SNORD116, diagnosed by methylation-sensitive MLPA...
March 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28255985/tyrosinemia-type-ii-mutation-update-eleven-novel-mutations-and-description-of-five-independent-subjects-with-a-novel-founder-mutation
#15
Luis Peña-Quintana, Gerd Scherer, María Lutgarda Curbelo-Estévez, Francisco Jiménez-Acosta, Britta Hartmann, Fátima La Roche, Silvia Meavilla-Olivas, Celia Pérez-Cerdá, Nuria García Segarra, Yves Giguère, Peter Huppke, Grant A Mitchell, Eberhard Mönch, Dorothy Trump, Christine Vianey-Saban, Elisabeth R Trimble, Isidro Vitoria-Miñana, Desiderio Reyes-Suárez, Teresa Ramírez-Lorenzo, Antonio Tugores
Tyrosinemia type II, also known as Richner-Hanhart Syndrome, is an extremely rare autosomal recessive disorder, caused by mutations in the gene encoding hepatic cytosolic tyrosine aminotransferase, leading to the accumulation of tyrosine and its metabolites which cause ocular and skin lesions, that may be accompanied by neurological manifestations, mostly intellectual disability. We report eleven novel genetic variants and have performed an extensive review of all cases described in the literature, identifying a total of 106 families, represented by 143 individuals, carrying a total of 36 genetic variants including 3 large deletions, 21 non-synonymous and 5 nonsense amino-acid changes, 5 frameshifts and 2 splice variants resulting in reduced function, truncated or absent TAT polypeptides...
March 3, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28244113/clinical-and-mutational-spectrum-of-japanese-patients-with-charcot-marie-tooth-disease-caused-by-gdap1-variants
#16
Akiko Yoshimura, Jun-Hui Yuan, Akihiro Hashiguchi, Yu Hiramatsu, Masahiro Ando, Yujiro Higuchi, Tomonori Nakamura, Yuji Okamoto, Kiichiro Matsumura, Toshiaki Hamano, Noriko Sawaura, Yoshimitsu Shimatani, Satoko Kumada, Yoshinori Okumura, Junichi Miyahara, Yoshitaka Yamaguchi, Shigekazu Kitamura, Kazuhiro Haginoya, Jun Mitsui, Hiroyuki Ishiura, Shoji Tsuji, Hiroshi Takashima
Mutations in GDAP1 are responsible for heterogeneous clinical and electrophysiological phenotypes, with autosomal dominant or recessive inheritance pattern. From April 2007 to October 2014, using three state-of-art technologies, we conducted gene panel sequencing in a cohort of 1,030 patients with inherited peripheral neuropathies (IPNs), and 398 mutation-negative cases were further analyzed with whole-exome sequencing. We identified GDAP1 variants from 10 patients clinically diagnosed with Charcot-Marie-Tooth disease (CMT)...
February 28, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28233300/a-novel-dnajb6-mutation-causes-dominantly-inherited-distal-onset-myopathy-and-compromises-dnajb6-function
#17
Pei-Chien Tsai, Yu-Shuen Tsai, Bing-Wen Soong, Yen-Hua Huang, Hung-Ta Wu, Ying-Hao Chen, Kon-Ping Lin, Yi-Chu Liao, Yi-Chung Lee
Mutations in the DNAJB6 gene have been identified as a rare cause of dominantly-inherited limb-girdle muscular dystrophy or distal-onset myopathy. To identify the genetic cause of distal-onset myopathy in a Taiwanese family of Han Chinese origin, we performed exome sequencing for the two affected individuals and identified a heterozygous mutation, c.287C>T (p.Pro96Leu) in the DNAJB6 gene that co-segregated with myopathy in the family. Notably, this mutation is novel and localizes within the glycine and phenylalanine-rich (G/F) domain and alters an amino acid residue previously reported with a different mutation...
February 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28224613/gli3-related-polydactyly-a-review
#18
REVIEW
M M Al-Qattan, H E Shamseldin, M A Salih, F S Alkuraya
GLI3 mutations are known to be associated with nine syndromes/conditions in which polydactyly is a feature. In this review, the embryology, pathogenesis, and animal models of GLI3-related polydactyly are discussed first. This is followed by a detailed review of the genotype-phenotype correlations. Based on our review of the literature and our clinical experiences, we recommend viewing GLI3-related syndromes/conditions as four separate entities; each characterized by a specific pattern of polydactyly. These four entities are: the preaxial polydactyly type IV-Greig-acrocallosal spectrum, postaxial polydactyly types A/B, Pallister-Hall syndrome (PHS), and oral-facial-digital overlap syndrome...
February 22, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28218389/confirming-the-recessive-inheritance-of-scn1b-mutations-in-developmental-epileptic-encephalopathy
#19
Wafaa Ramadan, Nisha Patel, Shamsa Anazi, Amal Y Kentab, Fahad A Bashiri, Muddathir H Hamad, Lamya Jad, Mustafa A Salih, Hessa Alsaif, Mais Hashem, Eissa Faqeih, Hanan E Shamseddin, Fowzan S Alkuraya
Dominant SCN1B mutations are known to cause several epilepsy syndromes in humans. Only two epilepsy patients to date have been reported to have recessive mutations in SCN1B as the likely cause of their phenotype. Here, we confirm the recessive inheritance of two novel SCN1B mutations in five children from three families with developmental epileptic encephalopathy. The recessive inheritance and early death in these patients is consistent with the Dravet-like phenotype observed in Scn1b(-/-) mice. The "negative" clinical exome in one of these families highlight the need to consider recessive mutations in the interpretation of variants in typically dominant genes...
February 20, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28218388/the-new-neuromuscular-disease-related-with-defects-in-the-asc-1-complex-report-of-a-second-case-confirms-ascc1-involvement
#20
Jorge Oliveira, Márcia Martins, Rosário Pinto Leite, Mário Sousa, Rosário Santos
Next-generation sequencing technology aided the identification of the underlying genetic cause in a female newborn with a severe neuromuscular disorder. The patient presented generalized hypotonia, congenital bone fractures, lack of spontaneous movements and poor respiratory effort. She died within the first days of life. Karyotyping and screening for several genes related with neuromuscular diseases all tested negative. A male sibling was subsequently born with the same clinical presentation. Whole-exome sequencing was performed with variant filtering assuming a recessive disease model...
February 20, 2017: Clinical Genetics
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