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European Journal of Medical Genetics

Mara Cavallin, Manuele Mine, Marion Philbert, Nathalie Boddaert, Jean Marie Lepage, Thibault Coste, Vanessa Lopez-Gonzalez, Maria Jose Sanchez-Soler, Maria Juliana Ballesta-Martínez, Ganaëlle Remerand, Laurent Pasquier, Agnès Guët, Jamel Chelly, Karine Lascelles, Carol Prieto-Morin, Manoelle Kossorotoff, Elisabeth Tournier Lasserve, Nadia Bahi-Buisson
Mutations in COL4A1 have been reported in schizencephaly and porencephaly combined with microbleeds or calcifications, often associated with ocular and renal abnormalities, myopathy, elevated creatine kinase levels and haemolytic anaemia. In this study, we aimed to clarify the phenotypic spectrum of COL4A1/A2 mutations in the context of cortical malformations that include schizencephaly, polymicrogyria and/or heterotopia. METHODS: We screened for COL4A1/A2 mutations in 9 patients with schizencephaly and/or polymicrogyria suspected to be caused by vascular disruption and leading to a cerebral haemorrhagic ischaemic event...
October 10, 2018: European Journal of Medical Genetics
El Younsi Mariem, Kraoua Lilia, Meddeb Rym, Ferjani Maryem, Trabelsi Médiha, Ouertani Ines, Maazoul Faouzi, Abid Nabil, Gargah Tahar, M'rad Ridha
Galloway-Mowat syndrome (GAMOS [MIM 251300]) is a rare autosomal recessive disorder that manifests as a combination of nephrotic syndrome, brain abnormalities and developmental delay. It is a clinically and genetically heterogeneous disease. The WDR73 variations are associated with GAMOS1. Here we report two consanguineous families affected by GAMOS1. In the first family, three sisters are affected and in the second family, only one index case is identified. They all show a nephrotic syndrome, a neurological involvement and a collapsing glomerulopathy...
October 10, 2018: European Journal of Medical Genetics
Lauren Jeffries, Jordan E Olivieri, Weizhen Ji, Michele Spencer-Manzon, Allen Bale, Monica Konstantino, Saquib A Lakhani
Mutations in Kelch-like family member 7 (KLHL7) have recently been described as a cause of a constellation of clinical findings with descriptions of both a Crisponi syndrome (CS)/cold-induced sweating syndrome type 1 (CISS1)-like, as well as a Bohring-Opitz syndrome (BOS)-like presentation. Here we report two siblings of Guatelmalan descent with a novel homozygous nonsense mutation (p.Arg326*) in KLHL7. These children have multiple dysmorphic features and developmental delay. Interestingly, their clinical traits inconsistently overlap both the CS/CISS1-like and BOS-like phenotypes, and the siblings also have subtle differences from each other, suggesting that clinicians need to be aware of the degree of variability in the presentations of these patients...
October 6, 2018: European Journal of Medical Genetics
Rajech Sharkia, Abdelnaser Zalan, Azhar Jabareen-Masri, Hazar Zahalka, Muhammad Mahajnah
The present study describes two patients with clinical diagnosis of ID, from a consanguineous family in Israel. Whole exome sequencing identified a homozygous missense mutation in the ADAT3 gene. The clinical features of our patients were compared with several cases described in two recently published studies that documented clinical manifestation of this same mutation. Both affected siblings in our study expressed the previously described clinical features such as intellectual disability, strabismus, FTT/underweight, microcephaly and hypotonia...
October 5, 2018: European Journal of Medical Genetics
Nancy Vegas, Mara Cavallin, Tjitske Kleefstra, Lonneke de Boer, Marion Philbert, Camille Maillard, Nathalie Boddaert, Arnold Munnich, Laurence Hubert, Amandine Bery, Claude Besmond, Nadia Bahi-Buisson
The advent of next generation sequencing has improved gene discovery in neurodevelopmental disorders. A greater understanding of the genetic basis of these disorders has expanded the spectrum of pathogenic genes, thus enhancing diagnosis and therapeutic management. Genetic overlap between distinct neurodevelopmental disorders has also been revealed, which can make determining a strict genotype-phenotype correlation more difficult. Intellectual disability and cortical malformations are two neurodevelopmental disorders particularly confronted by this difficulty...
September 27, 2018: European Journal of Medical Genetics
Leonardo Colombo, Andi Abeshi, Paolo E Maltese, Vladimir Frecer, Jan Miertuš, Davide Cerra, Matteo Bertelli, Luca Rossetti
Oguchi disease, is a very rare form of night blindness caused by biallelic variations in the SAG or GRK1 genes, both involved in rod restoration after light stimuli. Here we report the clinical and genetic findings of an 8-year old boy with a history of reduced visual acuity, nyctalpia and hemeralopia. Clinical findings, in particular the Mizuo-Nakamura phenomenon, were compatible with a diagnosis of Oguchi disease. Genetic testing revealed a novel missense homozygous variation in the SAG gene. This is the first evidence that the disease can be caused by missense variations in this gene...
September 27, 2018: European Journal of Medical Genetics
Yoko Narumi-Kishimoto, Naomi Araki, Ohsuke Migita, Tomoko Kawai, Kohji Okamura, Kazuhiko Nakabayashi, Tadashi Kaname, Yuri Ozawa, Hiroshi Ozawa, Fumio Takada, Kenichiro Hata
No abstract text is available yet for this article.
September 26, 2018: European Journal of Medical Genetics
Yi Liu, Dongxiao Li, Yuan Ding, Lulu Kang, Ying Jin, Jinqing Song, Haixia Li, Yanling Yang
BACKGROUND AND OBJECTIVES: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder with two major subtypes, which are caused by AGPAT2 and BSCL2 mutations. Our aim was to further investigate the genetic features and clinical characteristics of infant patients with CGL. PATIENTS AND METHODS: Three male infants and two female infants aged from one month to three months and unrelated with each other were involved in this study. Both whole-exome and Sanger sequencing were conducted, and variants were compared with in-house and public databases...
September 25, 2018: European Journal of Medical Genetics
Ron Hochstenbach, Ellen van Binsbergen, Heleen Schuring-Blom, Arjan Buijs, Hans Kristian Ploos van Amstel
Whole genome sequencing (WGS) holds the potential to identify pathogenic gene mutations, copy number variation, uniparental disomy and structural rearrangements in a single genetic test. With its high diagnostic yield and decreasing costs, the question arises whether WGS can serve as a single test for all referrals to diagnostic genome laboratories ("one test fits all"). Here, we provide an estimate for the proportion of clinically relevant aberrations identified by light microscopy in postnatal referrals that would go undetected by WGS...
September 21, 2018: European Journal of Medical Genetics
Esra Isik, Ayca Aykut, Tahir Atik, Ozgur Cogulu, Ferda Ozkinay
Heterozygous mutations in TOR1A gene are known to be responsible for DYT1 dystonia with incomplete penetrance. Autosomal recessive TOR1A disease is a very recently described syndrome characterized by severe arthrogryposis, developmental delay, strabismus and tremor. A 2 month-old boy with severe arthrogryposis and developmental delay was referred to our department for genetic counseling. Dystonic movements were observed on physical examination. Whole exome sequencing revealed a homozygous nonsense variant in exon 5 of TOR1A (c...
September 21, 2018: European Journal of Medical Genetics
Nicolas Mottet, Christelle Cabrol, Jean-Patrick Metz, Claire Toubin, Francine Arbez-Gindre, Mylène Valduga, Kenneth McElreavey, Didier Riethmuller, Lionel Van Maldergem, Juliette Piard
A 5,6 Mb de novo 19q12-q13.12 interstitial deletion was diagnosed prenatally by array-comparative genomic hybridization in a 26 weeks male fetus presenting with intra-uterine growth retardation, left clubfoot, atypical genitalia and dysmorphic features. Autopsic examination following termination of pregnancy identified a severe disorder of sex development (DSD) including hypospadias, micropenis, bifid scrotum and right cryptorchidism associated with signs of ectodermal dysplasia: scalp hypopigmentation, thick and frizzy hair, absence of eyelashes, poorly developed nails and a thin skin with prominent superficial veins...
September 18, 2018: European Journal of Medical Genetics
Yuichiro Miura, Tatsuya Watanabe, Toshihiko Uchida, Tatsuro Nawa, Naobumi Endo, Taichi Fukuzawa, Ryuji Ohkubo, Junji Takeyama, Ayako Sasaki, Kiyoshi Hayasaka
Congenital central hypoventilation syndrome is a disorder of respiratory control caused by mutations in the paired-like homeobox 2B gene. Mutations in the paired-like homeobox 2B gene are also responsible for Hirschsprung's disease. Variant Hirschsprung's disease is a rarer disorder that does not meet the diagnostic criteria of Hirschsprung's disease, although severe functional bowel obstruction persists. We present a case of an extremely low birth weight infant with congenital central hypoventilation syndrome and variant Hirschsprung's disease...
September 15, 2018: European Journal of Medical Genetics
Hua Liu, Ying-Jia Xu, Ruo-Gu Li, Zhang-Sheng Wang, Min Zhang, Xin-Kai Qu, Qi Qiao, Xiu-Mei Li, Ruo-Min Di, Xing-Biao Qiu, Yi-Qing Yang
As two members of the basic helix-loop-helix family of transcription factors, HAND1 and HAND2 are both required for the embryonic cardiogenesis and postnatal ventricular structural remodeling. Recently a HAND1 mutation has been reported to cause dilated cardiomyopathy (DCM). However, the association of a HAND2 mutation with DCM is still to be ascertained. In this research, the coding regions and splicing junction sites of the HAND2 gene were sequenced in 206 unrelated patients affected with idiopathic DCM, and a new heterozygous HAND2 mutation, NM_021973...
September 12, 2018: European Journal of Medical Genetics
Özlem Akgün Doğan, Gizem Ürel Demir, Can Koşukçu, Ekim Z Taskiran, Pelin Özlem Simsek-Kiper, Gülen Eda Utine, Mehmet Alikaşifoğlu, Koray Boduroğlu
Hyperphosphatasia with mental retardation syndrome (HPMRS) (OMIM # 239300), is an autosomal recessive disease with phenotypic variability, ranging from mild nonsyndromic intellectual disability to syndromic form with severe intellectual disability, seizures, elevated alkaline phosphatase, brachytelephalangy and facial dysmorphism, Six subgroups of HPMRS were defined in which pathogenic mutations affect genes involved in either synthesis or remodeling of the anchor proteins. Among these, PGAP3 mutations are associated with HPMRS type 4...
September 11, 2018: European Journal of Medical Genetics
Yang Pei, Glenda M Beaman, David Mansfield, Jill Clayton-Smith, Murray Stewart, William G Newman
Melkersson Rosenthal syndromes (MRS) is a rare autosomal dominantly inherited neurocutaneous syndrome characterised by a triad of facial (seventh cranial) nerve palsy, recurrent orofacial swelling and fissuring of the tongue. A recent report implicated a heterozygous missense variant in SLC27A1 (FATP1) as the cause of this condition in members of an affected Chinese family. We undertook Sanger sequencing of this gene in 14 affected unrelated individuals affected by MRS. We did not detect any putative pathogenic variants...
September 11, 2018: European Journal of Medical Genetics
Asami Sakaguchi, Yukio Yamashita, Tomohiro Ishii, Tomoko Uehara, Kenjiro Kosaki, Takao Takahashi, Toshiki Takenouchi
Among the many regulators of microRNA formation, Argonaute 1 (AGO1) plays critical roles in RNA interference, which controls a wide range of biological activities. Recent large-scale genomic studies have identified at least five patients with intellectual disability/autism spectrum disorder who had de novo mutations in AGO1, but detailed clinical information was not available. The recognizable clinical features that are associated with AGO1 mutations remain to be determined. The proposita was a 15-year-old girl with diffuse hypotonia, infrequent seizures, and intellectual disability with an intelligence quotient of 41...
September 11, 2018: European Journal of Medical Genetics
Todor Arsov, Mario Sestan, Nastasia Cekada, Marijan Frkovic, Dan Andrews, Yuke He, Nan Shen, Carola G Vinuesa, Marija Jelusic
We report a case of a 17-year-old Caucasian girl with syndromic features of clinically unrecognized Kabuki syndrome (KS), who developed systemic lupus erythematosus (SLE). Diagnosis of KS was established after whole exome sequencing (WES) and detection of de novo frameshift 1bp deletion in histone-lysine N-methyltransferase 2D gene (KMT2D). The pathogenic variant in exon 34 (c.8626delC: 55 reads C, 56 reads delC), has not been described previously and is predicted to truncate the protein (p.Gln2876Serfs*34) resulting in KMT2D loss of function...
September 11, 2018: European Journal of Medical Genetics
Marcello Niceta, Sabina Barresi, Francesca Pantaleoni, Rossella Capolino, Maria Lisa Dentici, Andrea Ciolfi, Simone Pizzi, Andrea Bartuli, Bruno Dallapiccola, Marco Tartaglia, Maria Cristina Digilio
TARP syndrome (TARPS) is an X-linked syndromic condition including Robin sequence, congenital heart defects, developmental delay, feeding difficulties and talipes equinovarus, as major features. The disease is caused by inactivating mutations in RBM10 which encodes for a RNA binding motif protein involved in transcript processing. We herein report a male born from healthy and non-consanguineous parents, presenting prenatal record of intrauterine fetal growth retardation, and postnatal features including growth and developmental delays, CNS abnormalities, facial dysmorphisms, bilateral syndactyly at the hands, talipes equinovarus and congenital heart defects...
September 3, 2018: European Journal of Medical Genetics
Taisuke Sato, Osamu Samura, Tomona Matsuoka, Masaki Yoshida, Hiroaki Aoki, Ohsuke Migita, Aikou Okamoto, Kenichiro Hata
We present a case with discordant results in three prenatal screening methods, with additional genetic analyses. Non-invasive prenatal testing (NIPT) was performed on a 41-year-old Japanese woman at 10 weeks of gestation, and the result was positive for trisomy 18 with high accuracy. Amniocentesis was performed at 16 weeks of gestation. However, the result showed 47,XX,+mar[16]/47,XX,+18[2]. Fetal examination by ultrasound revealed no malformations. After termination of the pregnancy, we performed additional genetic analyses, and confirmed the presence of confined placental mosaicism (CPM)...
August 30, 2018: European Journal of Medical Genetics
Chagai Grossman, Yonatan Kassel, Avi Livneh, Ilan Ben-Zvi
The clinical presentation of familial Mediterranean fever (FMF) is remarkably variable, ranging from a quiescent to a severe and disabling disease. The M694V mutation is one of approximately 300 published genetic variations in the FMF gene. While some studies have reported a more severe phenotype for the homozygous M694V mutation, studies dedicated solely to featuring the phenotype of homozygous M694V genotype are meager. The objective of the study was to present a comprehensive characterization of the homozygous M694V mutation associated phenotype, compared to the phenotypes of other FMF genotypes...
August 29, 2018: European Journal of Medical Genetics
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