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European Journal of Medical Genetics

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https://www.readbyqxmd.com/read/29229435/developmental-and-cytogenetic-assessments-of-preimplantation-embryos-derived-from-in-vivo-or-in-vitro-matured-human-oocytes
#1
Farzaneh Fesahat, Seyed Mehdi Kalantar, Mohammad Hasan Sheikhha, Hojjatollah Saeedi, Fatemeh Montazeri, Razieh Dehghani Firouzabadi, Mohammad Ali Khalili
Aneuploidy is of great relevance to embryo selection, as it represents one of the important causes of implantation failure. Furthermore, immature oocytes, retrieved during gonadotrophin-stimulated IVF cycles, are generally discarded in clinics; whereas, there was no detectable comprehensive evidence on higher rates of aneuploidy based on maturity status on the day of oocyte retrieval. As well, the correlation between embryo morphology on aneuploidy remains unclear. The aim was to evaluate the developmental and genetic integrity of human preimplantation embryos from rescue in-vitro matured MII stage oocytes as well as in vivo matured oocytes...
December 8, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29225145/surprisingly-good-outcome-in-antenatal-diagnosis-of-severe-hydrocephalus-related-to-ccdc88c-deficiency
#2
Mathew Wallis, Alessandra Baumer, Wiam Smaili, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Erica Jacobson, Lucy Bowyer, David Mowat, Anita Rauch
Non-syndromic congenital hydrocephalus is aetiologically diverse and while a genetic cause is frequently suspected, it often cannot be confirmed. The most common genetic cause is L1CAM-related X-linked hydrocephalus and that explains only 5%-10% of all male cases. This underlines a current limitation in our understanding of the genetic burden of non-syndromic congenital hydrocephalus, especially for those cases with likely autosomal recessive inheritance. Additionally, the prognosis for most cases of severe congenital hydrocephalus is poor, with most of the surviving infants displaying significant intellectual impairment despite surgical intervention...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29225144/copy-number-variants-in-people-with-autism-spectrum-disorders-and-co-morbid-psychosis
#3
Felicity V Larson, John R Arrand, Digby Tantam, Peter B Jones, Anthony J Holland
The genetic association between autism spectrum disorder (ASD) and psychotic disorders such as schizophrenia is complicated and mirrors the clinical overlap between these conditions to some degree. However, no studies to date have examined the genetics of individuals dually diagnosed with both ASD and psychosis. In this study, we present findings of copy number variants (CNVs) from a study of 116 well-characterised individuals with this dual diagnosis. DNA was extracted and arrayed using the Affymetrix CytoScan HD 2...
December 7, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29223505/pakistan-genetic-mutation-database-pgmd-a-centralized-pakistani-mutome-data-source
#4
Iqbal Qasim, Bilal Ahmad, Muzammil Ahmad Khan, Niamatullah Khan, Noor Muhammad, Sulman Basit, Saadullah Khan
The development and advancement of next generation sequencing have not only sped up the process of identifying rare variants, but have also enabled scientists to explore all variants in a single individual. The Pakistani population has a high ratio of first degree consanguinity, which is why it is a rich source for various kinds of genetic disorders. Due to the heterogeneous composition of Pakistani population, the likelihood of genetic heterogeneity for each disorder is high. Therefore, the compilation and organization of such vast genetic data is necessary to facilitate access for analysis and interpretation to researchers and medical geneticists...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29223504/potential-pathogenic-mechanisms-underlying-fragile-x-tremor-ataxia-syndrome-ran-translation-and-or-rna-gain-of-function
#5
REVIEW
Manon Boivin, Rob Willemsen, Renate K Hukema, Chantal Sellier
Fragile X-associated tremor/ataxia syndrome (FXTAS) is an inherited neurodegenerative disease caused by an expansion of 55-200 CGG repeats located in the FMR1 gene. The main clinical and neuropathological features of FXTAS are progressive intention tremor and gait ataxia associated with brain atrophy, neuronal cell loss and presence of ubiquitin-positive intranuclear inclusions in both neurons and astrocytes. At the molecular level, FXTAS is characterized by increased expression of FMR1 sense and antisense RNA containing expanded CGG or GGC repeats, respectively...
December 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29222010/a-novel-nr2f2-loss-of-function-mutation-predisposes-to-congenital-heart-defect
#6
Xiao-Hui Qiao, Qian Wang, Juan Wang, Xing-Yuan Liu, Ying-Jia Xu, Ri-Tai Huang, Song Xue, Yan-Jie Li, Min Zhang, Xin-Kai Qu, Ruo-Gu Li, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart defect (CHD) is the most common type of birth defect in humans and a leading cause of infant morbidity and mortality. Previous studies have demonstrated that genetic defects play a pivotal role in the pathogenesis of CHD. However, the genetic basis of CHD remains poorly understood due to substantial genetic heterogeneity. In this study, the coding exons and splicing boundaries of the NR2F2 gene, which encodes a pleiotropic transcription factor required for normal cardiovascular development, were sequenced in 168 unrelated patients with CHD, and a novel mutation (c...
December 5, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29222009/redefining-the-phenotypic-spectrum-of-de-novo-heterozygous-cdk13-variants-three-patients-without-cardiac-defects
#7
Tomoko Uehara, Toshiki Takenouchi, Rika Kosaki, Kenji Kurosawa, Seiji Mizuno, Kenjiro Kosaki
Recently, 7 patients with de novo constitutional non-synonymous mutations in the CDK13 gene were ascertained through a trio exome analysis of a large cohort of 610 patients with congenital cardiac diseases. Despite another report describing 9 additional patients, the clinical spectrum of this condition has yet to be defined. Herein, we report 3 patients with heterozygous constitutional CDK13 mutations, who were ascertained through exome analysis of children with intellectual disability and minor anomalies, who lacked cardiac anomalies...
December 5, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29191498/a-report-of-three-families-with-fbn1-related-acromelic-dysplasias-and-review-of-literature-for-genotype-phenotype-correlation-in-gelophysic-dysplasia
#8
S W Cheng, Ho-Ming Luk, YoYo W Y Chu, Yuet-Ling Tung, Elanie Yin-Wah Kwan, Ivan Fai-Man Lo, Brian Hon-Yin Chung
Acromelic dysplasia is a heterogeneous group of rare skeletal dysplasias characterized by distal limb shortening. Weill-Marchesani syndrome (WMS), Geleophysic dysplasia (GD) and Acromicric dysplasia (AD) are clinically distinct entities within this group of disorders and are characterized by short stature, short hands, stiff joints, skin thickening, facial anomalies, normal intelligence and skeletal abnormalities. Mutations of the Fibrillin-1 (FBN1) gene have been reported to cause AD, GD and related phenotypes...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29191497/recontacting-in-light-of-new-genetic-diagnostic-techniques-for-patients-with-intellectual-disability-feasibility-and-parental-perspectives
#9
Gea Beunders, Melodi Dekker, Oscar Haver, Hanne J Meijers-Heijboer, Lidewij Henneman
A higher diagnostic yield from new diagnostic techniques makes re-evaluation in patients with intellectual disability without a causal diagnosis valuable, and is currently only performed after new referral. Active recontacting might serve a larger group of patients. We aimed to evaluate parental perspectives regarding recontacting and its feasibility in clinical genetic practice. A recontacting pilot was performed in two cohorts of children with intellectual disability. In cohort A, parents were recontacted by phone and in cohort B by letter, to invite them for a re-evaluation due to the new technologies (array CGH and exome sequencing, respectively)...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29191496/a-higher-rare-cnv-burden-in-the-genetic-background-potentially-contributes-to-intellectual-disability-phenotypes-in-22q11-2-deletion-syndrome
#10
Matthew Jensen, Frank R Kooy, Tony Simon, Edwin Reyniers, Santhosh Girirajan, Flora Tassone
The 22q11.2 deletion syndrome (22q11DS), the most common survivable human genetic deletion disorder, is caused by a hemizygous deletion of 30-40 contiguous genes on chromosome 22, many of which have not been well characterized. Clinical features seen in patients with this deletion, including intellectual disability, are not completely penetrant and vary in severity between patients, suggesting the involvement of variants elsewhere in the genome in the manifestation of the phenotype. Given that it is a relatively rare disorder (1/2000-6000 in humans), limited research has shed light into the contribution of these second-site variants to the developmental pathogenesis that underlies 22q11DS...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29191495/atopic-disorders-in-charge-syndrome-a-retrospective-study-and-literature-review
#11
Fang Kong, Donna M Martin
BACKGROUND: Atopic disorders have been reported in CHARGE syndrome, but the prevalence and underlying mechanisms are not known. METHODS: We performed a retrospective study of atopic disorders in 23 individuals with CHARGE syndrome, and reviewed other published reports of atopic disorders in CHARGE syndrome. We assayed for enrichment of atopic disorders in CHARGE syndrome based on gender and presence of a CHD7 pathogenic variant. RESULTS: In our cohort, 65% (15/23) of individuals with CHARGE syndrome were found to have a pathogenic CHD7 variant...
November 27, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29183715/novel-mutations-and-a-severe-neurological-phenotype-in-sj%C3%A3-gren-larsson-syndrome-patients-from-iran
#12
Ariana Kariminejad, Mohammadreza Barzgar, Bita Bozorgmehr, Elham Keshavarz, Mohamad Hasan Kariminejad, Dana S'Aulis, William B Rizzo
Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by ichthyosis, spasticity and intellectual disability. The disease is caused by mutations in the ALDH3A2 gene that encodes fatty aldehyde dehydrogenase. We describe 7 Iranian SLS patients from 5 unrelated consanguineous families. Sequencing of ALDH3A2 identified 4 novel mutations, including a 26-bp deletion (c.25_50del), small in-frame deletion (c.370_372del; p.G124del), a termination (p.Q35Ter) and a missense mutation (p.Lys211Glu)...
November 25, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29175559/desmosterolosis-presenting-with-multiple-congenital-anomalies
#13
Mersedeh Rohanizadegan, Stephanie Sacharow
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short, wide neck and distal contractures...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29175558/a-complex-phenotype-in-a-family-with-a-pathogenic-sox3-missense-variant
#14
Anne M Jelsig, Birgitte R Diness, S Sven Kreiborg, Katharina Main, Vibeke A Larsen, Hanne Hove
Duplications and deletions of Xq26-27 including SOX3 (Xq27.1) have been associated with X-linked mental retardation and isolated growth hormone deficiency (OMIM 300123) or X-linked panhypopituitarism (OMIM 312000). Yet, pathogenic point mutations seem to be extremely rare. We report a family with three affected males with several clinical features including mild intellectual disability, microphthalmia, coloboma, hypopituitarism, facial dysmorphology and dental anomalies, including microcephaly, retrognathia and a solitary median maxillary central incisor amongst other features...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174089/uncommon-runs-of-homozygosity-disclose-homozygous-missense-mutations-in-two-ciliopathy-related-genes-spag17-and-wdr35-in-a-patient-with-multiple-brain-and-skeletal-anomalies
#15
Carlos Córdova-Fletes, Luis E Becerra-Solano, Martha M Rangel-Sosa, Ana María Rivas-Estilla, Kame Alberto Galán-Huerta, Rocío Ortiz-López, Augusto Rojas-Martínez, Clara I Juárez-Vázquez, José E García-Ortiz
We describe a patient severely affected with multiple congenital anomalies, including brain malformations and skeletal dysplasia suggestive of cranioectodermal dysplasia (CED) ciliopathy, who unusually carries several homozygosity tracts involving homozygous missense mutations in SPAG17 (exon 8; c.1069G > C; p.Asp357His) and WDR35 (exon 13; c.1415G > A; p.Arg472Gln) as revealed by homozygosity mapping and next generation sequencing. SPAG17 is essential for the function and structure of motile cilia, while WDR35 belongs to the same intraflagellar transport (IFT) gene family whose protein products are part of functional IFT A and B complexes...
November 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174094/missense-mutation-of-ttc7a-mimicking-tricho-hepato-enteric-sd-the-syndrome-in-a-patient-with-very-early-onset-inflammatory-bowel-disease
#16
João Farela Neves, Isabel Afonso, Luis Borrego, Catarina Martins, Ana Isabel Cordeiro, Conceição Neves, Caroline Lacoste, Catherine Badens, Alexandre Fabre
Tricho-hepato-enteric syndrome (SD/THE) and Multiple intestinal atresia with combined immune deficiency (MIA-CID) are autosomal recessive disorders that present immunological and gastrointestinal features. There are two different phenotypes of patients with TTC7A mutations: the severe form, caused by null mutations and leading to the classical MIA-CID; and the mild form, caused by missense mutations and leading to predominant features of VEO-IBD, less severe immunological involvement and hair abnormalities...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174093/novel-gnb1-de-novo-mutation-in-a-patient-with-neurodevelopmental-disorder-and-cutaneous-mastocytosis-clinical-report-and-literature-review
#17
Krzysztof Szczałuba, Anna Biernacka, Krystyna Szymańska, Piotr Gasperowicz, Joanna Kosińska, Małgorzata Rydzanicz, Rafał Płoski
De novo monoallelic mutations in the GNB1 gene, encoding a β subunit of heterotrimeric G proteins, cause a newly recognized disorder with the typical clinical picture of severe developmental delay/intellectual disability, hypotonia and extrapyramidal symptoms. We describe another case of the condition with manifestations of cutaneous mastocytosis associated with a novel do novo mutation GNB1NM_001282539.1: c.230G > T; p.(Gly77Val). We also present the detailed clinical and etiopathogenetic discussion on previously diagnosed patients as well as suggestions for the link of the mutation with skin disease...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174092/rare-copy-number-variants-identified-in-prune-belly-syndrome
#18
Nansi S Boghossian, Robert J Sicko, Andreas Giannakou, Aggeliki Dimopoulos, Michele Caggana, Michael Y Tsai, Edwina H Yeung, Nathan Pankratz, Benjamin R Cole, Paul A Romitti, Marilyn L Browne, Ruzong Fan, Aiyi Liu, Denise M Kay, James L Mills
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare congenital disorder characterized by absence or hypoplasia of the abdominal wall musculature, urinary tract anomalies, and cryptorchidism in males. The etiology of PBS is largely unresolved, but genetic factors are implicated given its recurrence in families. We examined cases of PBS to identify novel pathogenic copy number variants (CNVs). A total of 34 cases (30 males and 4 females) with PBS identified from all live births in New York State (1998-2005) were genotyped using Illumina HumanOmni2...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174091/pancreatic-hemi-agenesis-in-men1-a-clinical-report
#19
Wouter J Vinck, Frank Van de Mierop, François Van Mieghem, Maarten Vinck, Herman Becq, Geneviève Michils
We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported in MEN1. Recent data in mice have elucidated the molecular mechanisms of pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to be important in how Gata4 and Gata6 variants cause pancreatic agenesis. Disinhibition of hedgehog signaling has also been observed in Men1 knockout pancreatic islets. Although we cannot exclude a spurious association between dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that developmental abnormalities of the pancreas may have to be considered as possibly related to the MEN1 phenotype...
November 22, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29174090/molecular-cytogenetics-characterization-of-seven-small-supernumerary-marker-chromosomes-derived-from-chromosome-19-genotype-phenotype-correlation-and-review-of-the-literature
#20
Maria Paola Recalcati, Maria Teresa Bonati, Nicola Beltrami, Laura Cardarelli, Ilaria Catusi, Asia Costa, Maria Garzo, Isabella Mammi, Teresa Mattina, Elisa Nalesso, Anna Maria Nardone, Diana Postorivo, Anna Sajeva, Aminta Varricchio, Annapia Verri, Nicoletta Villa, Lidia Larizza, Daniela Giardino
Only a few subjects carrying supernumerary marker chromosomes derived from 19 chromosome (sSMC(19)) have been described to date and for a small portion of them the genic content has been defined at the molecular level. We present seven new different sSMCs(19) identified in eight individuals, seven of whom unrelated. The presence of the sSMC is associated with a clinical phenotype in five subjects, while the other three carriers, two of whom related, are normal. All sSMCs(19) have been characterized by means of conventional and molecular cytogenetics...
November 22, 2017: European Journal of Medical Genetics
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