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Clinical Genetics

Emily P McCann, Kelly L Williams, Jennifer A Fifita, Ingrid S Tarr, Jody O'Connor, Dominic B Rowe, Garth A Nicholson, Ian P Blair
Amyotrophic lateral sclerosis (ALS) is a clinically and genetically heterogeneous fatal neurodegenerative disease. Around 10% of ALS cases are hereditary. ALS gene discoveries have provided most of our understanding of disease pathogenesis. We aimed to describe the genetic landscape of ALS in Australia by assessing 1013 Australian ALS patients for known ALS mutations by direct sequencing, whole exome sequencing or repeat primed PCR. Age of disease onset and disease duration were used for genotype-phenotype correlations...
January 20, 2017: Clinical Genetics
C Tardieu, S Jung, K Niederreither, M Prasad, S Hadj-Rabia, N Philip, A Mallet, E Consolino, E Sfeir, B Noueiri, N Chassaing, H Dollfus, M-C Manière, A Bloch-Zupan, F Clauss
WNT10A gene encodes a canonical wingless pathway signaling molecule involved in cell fate specification as well as morphogenetic patterning of the developing ectoderm, nervous system, skeleton, and tooth. In patients, WNT10A mutations are responsible for ectodermal-derived pathologies including isolated hypo-oligodontia, tricho-odonto-onycho-dermal dysplasia (TOODD) and Schöpf-Schulz-Passarge Syndrome (SSPS). Here we describe the dental, ectodermal, and extra-ectodermal phenotypic features of a cohort of 41 patients from 32 unrelated families...
January 20, 2017: Clinical Genetics
James Kayima, Jingjing Liang, Yanina Natanzon, Joaniter Nankabirwa, Isaac Ssinabulya, Jane Nakibuuka, Achilles Katamba, Harriet Mayanja-Kizza, Alexander Miron, Chun Li, Xiaofeng Zhu
Genetic variation may explain some of the disparity in prevalence and control of hypertension across sub-Saharan Africa. Twenty-seven blood pressure (BP) related single nucleotide polymorphisms (SNPs) were genotyped among 2881samples from participants in the MEPI-CVD survey. Associations with known BP variants were evaluated for SBP, DBP and PP as continuous variables and for HTN as a binary variable. Eleven SNPS were associated with at least one BP trait (P < 0.05). Four SNPs; rs2004776, rs7726475, rs11837544 and rs2681492 whose nearest genes are AGT, NPR3/SUB1, PLXNC1 and ATP2B1 respectively were associated with SBP...
January 20, 2017: Clinical Genetics
Tania Cruz Marino, Bruno Maranda, Josianne Leblanc, Annabelle Pratte, Melinda Barabas, Audrey Dupéré, Sébastien Lévesque
Naxos disease is an autosomal recessive condition characterized by: arrhythmogenic right ventricular cardiomyopathy, palmoplantar keratoderma and woolly hair. Seven unrelated Caucasians patients of French-Canadian descent shared the same homozygous mutation in the exon 5 of JUP gene: c.902A > G (p Glu30 1 Gly). This might be secondary to the well-known founder effect in the population of the Saguenay-Lac-St-Jean/Charlevoix region. Naxos disease should be considered in those cases with cutaneous and hair findings even if they do not fulfill the criteria for ARVC by adolescence, and/or in those cases with an ARVC without prominent cutaneous findings, especially if of French-Canadian descent...
January 18, 2017: Clinical Genetics
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
Anne Mayer, Baptiste Fouquet, Michel Pugeat, Micheline Misrahi
Premature ovarian insufficiency (POI) affects 1-2% of women under 40 years. BMP15 variants have been described in POI. We studied a family with two sisters compound heterozygous for deletions in the BMP15 gene on chromosome Xp11.22 yielding a human "knockout-like" effect: a c.151_152delGA deletion yielded a p.Glu51IlefsTer27 mutation transmitted by the hemizygous father and a c.189_198delAGGGCATTCAinsTG deletion/insertion yielded a p.Glu64AlafsTer12 mutation transmitted by the heterozygous mother. Both deletions resulted in frameshifts with premature stop codons at positions 78 and 76 in the proregion, precluding mature BMP15 production...
January 17, 2017: Clinical Genetics
N Chatron, G Lesca, A Labalme, P A Rollat-Farnier, P Monin, E Pichot, P Edery, D Sanlaville, M Rossi
No abstract text is available yet for this article.
January 16, 2017: Clinical Genetics
Humam Kadara, Georges Nemer, Remi Safi, Nelly Rebeiz, Laetitia Daou, Diana Delbani, Waed Btadini, Ossama Abbas, Mona Tofaili, Fadi Bitar, Abdul Ghani Kibbi, Yutaka Shimomura, Mazen Kurban
Erythropoietic protoporphyria (EPP) is a rare cutaneous and systemic disease caused by mutations in the ferrochelatase gene (FECH). The molecular underpinnings of EPP in Middle Eastern populations and relative to other ethnic groups secondary to increased consanguinity are unknown. To understand the molecular pathogenesis of Middle Eastern EPP, we surveyed clinicopathological and molecular features in six large consanguineous families from Lebanon and Syria presenting with cutaneous and systemic features consistent with EPP...
January 11, 2017: Clinical Genetics
Matthias Baumann, Elisabeth Steichen-Gersdorf, Birgit Krabichler, Thomas Müller, Andreas R Janecke
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8-year-old boy with the same pattern of MCA...
January 11, 2017: Clinical Genetics
Chang-Myung Oh, Sukeong Chun, Jie-Eun Lee, Joon Suk Lee, Sangkyu Park, Heon Yung Gee, Sang Wan Kim
A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late onset adrenal insufficiency without hypogonadism.
January 11, 2017: Clinical Genetics
Fernando Santos-Simarro, Elena Vallespín García, Ángela Del Pozo Maté, Kristina Ibáñez Garikano, Juan Carlos Silla, Luis Fernández García-Moya, Julián Nevado, Héctor González-Pecellín, Victoria Eugenia F Montaño, Rubén Martín Arenas, Lázaro I Alba Valdivia, Sixto García-Miñaúr, Pablo Lapunzina, María Palomares Bralo
No abstract text is available yet for this article.
January 11, 2017: Clinical Genetics
Jimena Barraza-García, Carlos I Rivera-Pedroza, Alfonso Hisado-Oliva, Alberta Belinchón-Martínez, Lucia Sentchordi-Montané, Emma L Duncan, Graeme R Clark, Angela Del Pozo, Kristina Ibáñez-Garikano, Amaka Offiah, Pablo Prieto-Matos, Valerie Cormier-Daire, Karen E Heath
POP1 is a large protein common to the RNase-MRP and RNase-P (RMRP) endoribonucleoprotein complexes. Although its precise function is unknown, it appears to participate in the assembly or stability of both complexes. Numerous RMRP mutations have been reported in individuals with cartilage hair hypoplasia (CHH) but, to date, only three POP1 mutations have been described in two families with features similar to anauxetic dysplasia (AD). We present two further individuals, one with severe short stature and a relatively mild skeletal dysplasia and another in whom AD was suspected...
January 9, 2017: Clinical Genetics
Xing-Kai An, Jie Fang, Zhen-Zhen Yu, Qing Lin, Cong-Xia Lu, Hong-Li Qu, Qi-Lin Ma
Several genome-wide association studies (GWASs) in Caucasian populations have identified 12 loci that are significantly associated with migraine. More evidence suggests that serotonin receptors are also involved in migraine pathophysiology. In the present study, a case-control study was conducted in a cohort of 581 migraine cases and 533 ethnically matched controls among a Chinese population. Eighteen polymorphisms from serotonin receptors and GWASs were selected, and genotyping was performed using a Sequenom MALDI-TOF mass spectrometry iPLEX platform...
January 6, 2017: Clinical Genetics
Luciane Martins, Renato Assis Machado, Darlle Santos Araujo, Priscila Alves Giovani, Pedro Diniz Rebouças, Lívia Pagotto Rodrigues, Luciana Souto Mofatto, Mariana Martins Ribeiro, Luiz Lehmann Coutinho, Regina Maria Puppin-Rontani, Ricardo D Coletta, Francisco Humberto Nociti, Kamila Rosamilia Kantovitz
No abstract text is available yet for this article.
January 4, 2017: Clinical Genetics
Maddalena Gigante, Sterpeta Diella, Luisa Santangelo, Eva Trevisson, Manuel Jesús Acosta, Matilde Amatruda, Giovanna Finzi, Gianluca Caridi, Luisa Murer, Matteo Accetturo, Elena Ranieri, Gian Marco Ghiggeri, Mario Giordano, Giuseppe Grandaliano, Leonardo Salviati, Loreto Gesualdo
: We descripe three patients with SRNS associated with pathogentic changes in two CoQ pathway genes: one novel homozygous COQ2 variant was identified in two cousins with adolescent-onset SRNS and mild neurological symptoms (Family 1); and one novel COQ6 variant was found in a child with early onset SRNS without deafness and neurological involvement (Family 2). (A, B) : families (C) : Sanger sequencing showing COQ2 change: NM_015697.7: c.1169G>C; NP_056512.5; p.Gly390Ala (c.1019G>C; p...
January 2, 2017: Clinical Genetics
Mohammad Shagrani, Jessica Burkholder, Dieter Broering, Mohamed Abouelhoda, Tariq Faquih, Mohamed El-Kalioby, Shazia N Subhani, Ewa Goljan, Renad Albar, Dorota Monies, Nejat Mazhar, Basma S AlAbdulaziz, Khalid Al Abdelrahman, Nada Altassan, Fowzan S Alkuraya
Advanced cholestatic liver disease is a leading referral to pediatric liver transplant centers. Recent advances in the genetic classification of this group of disorders promise a highly personalized management although the genetic heterogeneity also poses a diagnostic challenge. Using a next-generation sequencing-based multi-gene panel, we performed retrospective analysis of 98 pediatric patients who presented with advanced cholestatic liver disease. A likely causal mutation was identified in the majority (61%), spanning many genes including ones that have only rarely been reported to cause cholestatic liver disease e...
December 30, 2016: Clinical Genetics
Ruth Scheuvens, Matthias Begemann, Lukas Soellner, Dieter Meschede, Gisela Raabe-Meyer, Miriam Elbracht, Regine Schubert, Thomas Eggermann
Maternal uniparental disomy of chromosome 16 (upd(16)mat) as the result of trisomy 16 is one of the most frequently reported uniparental disomies in humans, but a consistent phenotype is not obvious. Particularly, it is difficult to discriminate between features resulting from upd(16)mat and mosaic trisomy 16. By evaluating literature data (n = 74) and three own cases we aimed to determine whether the clinical features are due to upd(16)mat or to trisomy 16 mosaicism. Whereas in single cases the clinical symptoms were caused by homozygosity of autosomal recessive mutations on chromosome 16, it turned out that clinical features in upd(16)mat are caused by (hidden) trisomy 16 mosaicism and a specific chromosome 16 associated imprinting disorder does not exist...
December 29, 2016: Clinical Genetics
Cindy Colson, Estelle Aubry, Maryse Cartigny, Amélie-Anne Rémy, Hélène Franquet, Xavier Leroy, Géraldine Kéchid, Christine Lefèvre, Rémi Besson, Martine Cools, Anne Françoise Spinoit, Charles Sultan, Sylvie Manouvrier, Pascal Philibert, Jamal Ghoumid
Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous nonsense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia...
December 29, 2016: Clinical Genetics
I Ahmad, S M Baig, A R Abdulkareem, M S Hussain, I Sur, M R Toliat, G Nürnberg, N Dalibor, A Moawia, S S Waseem, M Asif, H Nagra, M Sher, M M Ali Khan, I Hassan, S Ur Rehman, H Thiele, J Altmüller, A A Noegel, P Nürnberg
Autosomal recessive primary microcephaly (MCPH) is a rare and heterogeneous genetic disorder characterized by reduced head circumference, low cognitive prowess and, in general, architecturally normal brains. As many as 14 different loci have already been mapped. We recruited 35 MCPH families in Pakistan and could identify the genetic cause of the disease in 31 of them. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified twelve novel mutations in three known MCPH-associated genes - nine in ASPM, two in MCPH1 and one in CDK5RAP2...
December 22, 2016: Clinical Genetics
M Santoro, M Masciullo, G Silvestri, G Novelli, A Botta
Myotonic dystrophy type 1 (DM1) is a multisystem neuromuscular disease caused by a CTG triplet expansion in the 3' UTR of DMPK gene. This CTG array is usually uninterrupted in both healthy and DM1 patients, but recent studies identified pathological variant expansions containing unstable CCG, CTC and CGG interruptions with a prevalence of 3-5% of cases. In this review, we will describe the clinical, molecular and genetic issues related to the occurrence of variant expansions associated with DM1. Indeed, the identification of these complex DMPK alleles leads to practical consequences in DM1 genetic counseling and testing, since these exams can give false negative results...
December 19, 2016: Clinical Genetics
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