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European Journal of Medical Genetics

Ye-Qing Qian, Xiao-Qing Wang, Min Chen, Yu-Qin Luo, Kai Yan, Yan-Mei Yang, Bei Liu, Li-Ya Wang, Ying-Zhi Huang, Hong-Ge Li, Hang-Yi Pan, Fan Jin, Min-Yue Dong
BACKGROUND: Fetal chromosome aberrations and sub-chromosomal copy number variations (CNVs) are not rare. There are several ways to detect duplications and deletions; cell-free DNA screening (cfDNA screening) is nowadays an accurate and safe detection method. The objective of this study is to report the feasibility of cfDNA screening as an indicator of parental balanced chromosome translocation. RESULTS: From February 2015 to March 2016, cfDNA screening was offered to 11344 pregnant women...
June 18, 2018: European Journal of Medical Genetics
Paula Braz, Ausenda Machado, Carlos Matias Dias
The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997-2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines...
June 13, 2018: European Journal of Medical Genetics
Meena Balasubramanian, Diana S Johnson
BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases due to impaired lipid and protein glycosylation. It comprises a characteristic high frequency of intellectual disability (ID) and a wide range of clinical phenotypes. OBJECTIVE: (s): To identify the underlying diagnosis in two families each with two siblings with variable level of ID through trio whole exome sequencing. METHODS: Both the families were recruited to the Deciphering Developmental Disorders (DDD) study to identify the aetiology for their ID...
June 13, 2018: European Journal of Medical Genetics
Wladimir Wertelecki, Lyubov Yevtushok, Illia Kuznietsov, Oleksandr Komov, Serhii Lapchenko, Diana Akhmedzanova, Lyubov Ostapchuk
Pregnant women residing in areas impacted by the Chornobyl ionizing radiation of the Rivne Province in Ukraine have persistent higher levels of incorporated cesium-137. In these areas the neural tube defects and microcephaly rates are significantly higher than in areas with lower maternal cesium-137 incorporated levels. In two Rivne counties with populations proximal to nuclear power plants the rates of neural tube defects and microcephaly are the highest in the province. The neural tube defects rates in Rivne are persistently among the highest in Europe...
June 13, 2018: European Journal of Medical Genetics
Ying Qiao, Hani Bagheri, Flamingo Tang, Chansonette Badduke, Sally Martell, Suzanne M E Lewis, Wendy Robinson, Mary B Connolly, Laura Arbour, Evica Rajcan-Separovic
The clinical significance of Xp22.31 microduplication is controversial as it is reported in subjects with developmental delay (DD), their unaffected relatives and unrelated controls. We performed multifaceted studies in a family of a boy with hypotonia, dysmorphic features and DD who carried a 600 Kb Xp22.31 microduplication (7515787-8123310bp, hg19) containing two genes, VCX and PNPLA4. The duplication was transmitted from his cognitively normal maternal grandfather. We found no evidence of the duplication causing the proband's DD and congenital anomalies based on unaltered expression of PNPLA4 in the proband and his mother in comparison to controls and preferential activation of the paternal chromosome X with Xp22...
June 13, 2018: European Journal of Medical Genetics
Ilse Luyckx, Nikhita Bolar, Birgitte Rode Diness, Hanne B Hove, Aline Verstraeten, Bart L Loeys
No abstract text is available yet for this article.
June 12, 2018: European Journal of Medical Genetics
Lorenzo D Botto, Pierpaolo Mastroiacovo
Better outcomes are a priority for all those who care about birth defects and rare diseases. Public health surveillance and epidemiologic data tracking historically have provided good data on disease occurrence but at most uncertain value in promoting better outcomes, be these in terms of supporting primary prevention or better care. We propose three enhancements to improve the value of surveillance. First, merge: eliminate the largely artificial separation between birth defects and rare diseases in surveillance...
June 11, 2018: European Journal of Medical Genetics
Karen J Low, J Baptista, M Babiker, R Caswell, C King, S Ellard, I Scurr
No abstract text is available yet for this article.
June 11, 2018: European Journal of Medical Genetics
Elisa Ballardini, Pietro Marino, Elisa Maietti, Gianni Astolfi, Amanda J Neville
Agenesis and hypoplasia of the corpus callosum (ACC and HCC) are heterogeneous group with a large variation in published prevalence based on few population based studies. The aim of this work is to describe prevalence, associated factors and other malformations present in cases with either agenesis or hypoplasia of the corpus callosum, using a population-based database of all malformations diagnosed in Emilia-Romagna, Italy, (the Emilia-Romagna Registry on Congenital Malformations, IMER). This registry links and integrates hospital discharge records, birth certificates with cases reported by referral clinicians to identify all structural malformations diagnosed within one year of life regarding live birth, fetal death or termination of pregnancy due to fetal malformations (TOPFA)...
June 11, 2018: European Journal of Medical Genetics
Chloe Stutterd, George McGillivray, Zornitza Stark, Betty Messazo, Fergus Cameron, Sue White, Ghayda Mirzaa, Richard Leventer
We report a 16-month-old male with congenital megalencephaly, polymicrogyria and persistent hypoglycemia caused by a mosaic PIK3CA pathogenic variant. Hypoinsulinaemic, hypoketotic hypoglycaemia is a rare complication of pathogenic variants in the PI3K-AKT-mTOR pathway genes including AKT2, AKT3, CCND2, PIK3R2 and PIK3CA, and has been identified in a PIK3CA mutant mouse model. Our case highlights the importance of considering PI3K-AKT-mTOR pathway variants as a cause for megalencephaly and cortical malformation when the phenotype includes hypoglycaemia...
June 5, 2018: European Journal of Medical Genetics
Katrien Stouffs, Stéphanie Moortgat, Tim Vanderhasselt, Laura Vandervore, Alice Dica, Mikaël Mathot, Kathelijn Keymolen, Sara Seneca, Alexander Gheldof, Linda De Meirleir, Anna C Jansen
Biallelic mutations in the RTTN gene have been reported in association with microcephaly, short stature, developmental delay and malformations of cortical development. RTTN mutations have previously shown to link aberrant ciliary function with abnormal development and organization of the human cerebral cortex. We here report three individuals from two unrelated families with novel mutations in the RTTN gene. The phenotype consisted of microcephaly, short stature, pachygyria or polymicrogyria, colpocephaly, hypoplasia of the corpus callosum and superior vermis...
June 5, 2018: European Journal of Medical Genetics
Toshiki Takenouchi, Hiroyuki Shimada, Tomoko Uehara, Yae Kanai, Takao Takahashi, Kenjiro Kosaki
Loss-of-function mutations in coagulation cascade proteins lead to bleeding diasthesis. In contrast, gain-of-function mutations in these proteins, which are exceptionally rare, lead to hereditary thrombosis. This is best exemplified by Factor V (i.e., Factor V Leiden) and Factor II (i.e., p.Arg596Leu). Here, we report a family with hereditary thrombosis. The proposita presented with cerebral venous thrombosis accompanied by infarction at the age of 12 years. Despite anticoagulation therapy with oral warfarin, she later developed deep venous thrombosis in her hepatic portal veins at the age of 27 years...
June 4, 2018: European Journal of Medical Genetics
Piero Pavone, Raffaele Falsaperla, Renata Rizzo, Andrea D Praticò, Martino Ruggieri
Array-based comparative genomic hybridization is a routine technology that helps clinicians in the diagnostic evaluation of individuals presenting with developmental delays or malformation anomalies. With this technique, several patients affected by microdeletion 2p15-p16.1 have been reported, and this anomaly has been recognized as a distinct syndrome. In contrast, clinical features of patients with microduplication in the same region have been registered in clinical and genetic data-bases and until now only a single patient has been in detail reported in the literature and laboratories data-bases and to date only a single patient has been reported in detail in the literature...
June 1, 2018: European Journal of Medical Genetics
Laure Merametdjian, Tony Prud'Homme, Cédric Le Caignec, Bertrand Isidor, Serena Lopez-Cazaux
Runt-related transcription factor 2 (RUNX2) is well-known for its role in bone development and tooth morphogenesis. Most RUNX2 mutations described in the literature result in loss-of-function mutations of RUNX2 responsible for cleidocranial dysplasia, an autosomal dominant disorder. We describe here the oro-dental phenotype of four patients of a unique family with a 285 kb duplication including the entire sequence of RUNX2, likely responsible for three functional copies of the gene, leading to an increased RUNX2 dosage...
May 28, 2018: European Journal of Medical Genetics
Jennifer A Ruskey, Lior Greenbaum, Léanne Roncière, Armaghan Alam, Dan Spiegelman, Christopher Liong, Oren A Levy, Cheryl Waters, Stanley Fahn, Karen S Marder, Wendy Chung, Gilad Yahalom, Simon Israeli-Korn, Vered Livneh, Tsvia Fay-Karmon, Roy N Alcalay, Sharon Hassin-Baer, Ziv Gan-Or
BACKGROUND: Variants in GBA are the most common genetic risk factor for Parkinson's disease (PD), and are especially prevalent in the Ashkenazi Jewish (AJ) population. However, most studies on GBA in AJ genotype only seven selected Gaucher-associated pathogenic variants rather than sequencing the whole gene, which may leave carriers of PD-associated GBA variants undiscovered. METHODS: GBA was fully sequenced using molecular inversion probes (MIPs) and Sanger sequencing in 735 AJ PD patients and 662 AJ controls, from Israel and New York...
May 26, 2018: European Journal of Medical Genetics
Guido Kranenburg, Annette F Baas, Pim A de Jong, Folkert W Asselbergs, Frank L J Visseren, Wilko Spiering
BACKGROUND: Pseudoxanthoma elasticum (PXE), an autosomal recessive systemic calcification disorder, is caused by mutations in the ABCC6-gene and associated with severe visual impairment and peripheral arterial disease. Given the progress in development of a therapy for PXE, more precise estimations of its prevalence are warranted. METHODS: We genotyped the four most common ABCC6 mutations (c.3421C > T, c.4182delG, c.3775delT, c.2787+1G > T), together accounting for half of all ABCC6 mutations identified in PXE patients from the Dutch population, in a Dutch high vascular risk cohort (n = 7893)...
May 22, 2018: European Journal of Medical Genetics
Seyoung Yu, Hye Ji Choi, Joon Suk Lee, Hyun Jae Lee, John Hoon Rim, Jae Young Choi, Heon Yung Gee, Jinsei Jung
OTOG was identified as a nonsyndrmoic hearing loss gene in 2012 in two families with nonprogressive mild-to-moderate hearing loss. However, no further literature have this gene for nonsyndromic hearing loss. Furthermore, it is still unclear whether vestibular impairment is involved or not in patients with mutations in OTOG. This study presents a validated second report for homozygous causative mutations in OTOG of mild hearing loss. Whole exome sequencing (WES) was performed in a five-year-old male proband with mild hearing loss...
May 22, 2018: European Journal of Medical Genetics
Lisa Crowe, Ruth H Graham, Stephen C Robson, Judith Rankin
Termination of pregnancy for fetal anomaly is legal in the UK with no upper limit, if two doctors, in good faith, agree "there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped". This is Clause E of the Human Fertlisation and Embryology Act. The most commonly sighted Clause is C, which states "the pregnancy has not exceeded its twenty-fourth week and that the continuance of the pregnancy would involve risk, greater than if the pregnancy were terminated, of injury to the physical or mental health of the pregnant woman"...
May 16, 2018: European Journal of Medical Genetics
Ingeborg Barisic, Ljubica Boban, Diana Akhmedzhanova, Jorieke E H Bergman, Clara Cavero-Carbonell, Ieva Grinfelde, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Hanitra Randrianaivo, Natalya Zymak-Zakutnya, Ivona Sansovic, Monica Lanzoni, Joan K Morris
Beckwith Wiedemann syndrome is a complex developmental disorder characterized by somatic overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycemia, and predisposition to embryonal tumors. We present epidemiological and clinical aspects of patients with Beckwith Wiedemann syndrome diagnosed prenatally or in the early years of life, using data from EUROCAT (European Surveillance of Congenital Anomalies) registries. The study population consisted of 371 cases identified between January 1990 and December 2015 in 34 registries from 16 European countries...
May 16, 2018: European Journal of Medical Genetics
Audrey Uk, Sophie Collardeau-Frachon, Quentin Scanvion, Lucas Michon, Emmanuelle Amar
INTRODUCTION: Assisted Reproductive Technologies (ART) is increasingly used to help infertile couples to have children around the world. A number of studies have been published reporting an increased risk of major malformations in children born following ART, especially an increased incidence of epigenetic diseases (ED). This study aimed to assess the incidence of epigenetic diseases with affected imprinting genes in infants or children from pregnancies obtained through IVF/ICSI compared to infants or children from pregnancies obtained spontaneously...
May 15, 2018: European Journal of Medical Genetics
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