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American Journal of Medical Genetics. Part A

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https://www.readbyqxmd.com/read/28544784/presynaptic-congenital-myasthenic-syndrome-with-a-homozygous-sequence-variant-in-lama5-combines-myopia-facial-tics-and-failure-of-neuromuscular-transmission
#1
Ricardo A Maselli, Juan Arredondo, Jessica Vázquez, Jessica X Chong, Michael J Bamshad, Deborah A Nickerson, Marian Lara, Fiona Ng, Victoria L Lo, Peter Pytel, Craig M McDonald
Defects in genes encoding the isoforms of the laminin alpha subunit have been linked to various phenotypic manifestations, including brain malformations, muscular dystrophy, ocular defects, cardiomyopathy, and skin abnormalities. We report here a severe defect of neuromuscular transmission in a consanguineous patient with a homozygous variant in the laminin alpha-5 subunit gene (LAMA5). The variant c.8046C>T (p.Arg2659Trp) is rare and has a predicted deleterious effect. The affected individual, who also carries a rare homozygous sequence variant in LAMA1, had muscle weakness, myopia, and facial tics...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544599/a-tumor-profile-in-patau-syndrome-trisomy-13
#2
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans, Marie-Pierre Chenard, Ann Barnes
Individuals with trisomic conditions like Down syndrome and Edwards syndrome are prone to certain types of malignancy. However, for Patau syndrome (constitutional trisomy 13), which occurs in 1/10,000-1/20,000 live births, the tumor profile has not been well characterized. An awareness of susceptibility to malignancies can improve care of affected individuals, as well as further our understanding of the contribution of trisomy to carcinogenesis. Therefore, we conducted an extensive review of the literature; we found 17 malignancies reported in individuals with Patau syndrome...
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544325/4-7%C3%A2-mb-deletion-encompassing-tgfb2-associated-with-features-of-loeys-dietz-syndrome-and-osteoporosis-in-adulthood
#3
LETTER
Harald Gaspar, Bernd Lutz, Kerstin Reicherter, Simon Lühl, Rita Taurman, Heinz Gabriel, Rolf E Brenner, Guntram Borck
No abstract text is available yet for this article.
May 25, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544625/a-mutation-in-gabrb3-associated-with-dravet-syndrome
#4
Sy Vinh Le, Phan Hoang Truc Le, Thi Khanh Van Le, Thi Thuy Kieu Huynh, Thi Thu Hang Do
Dravet syndrome is a rare and severe type of epilepsy in infants. Approximately, 70-80% of patients with Dravet syndrome have mutations in SCN1A, the gene encoding the alpha-1 subunit of the sodium channel, while some simplex patients have variants in one of several other genes, including but not limited to GABRA1, SCN2A, STXBP1, GABRG2, and SCN1B. In this study, we performed exome sequencing in six patients with SCN1A-negative Dravet syndrome to identify other genes related to this disorder. In one affected individual, we detected a novel de novo heterozygous missense variant, c...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544518/correspondence-to-gripp-et-al-nephroblastomatosis-or-wilms-tumor-in-a-fourth-patient-with-a-somatic-pik3ca-mutation
#5
LETTER
Floor A M Postema, Saskia M J Hopman, Matthew A Deardorff, Johannes H M Merks, Raoul C Hennekam
No abstract text is available yet for this article.
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544488/obstructive-sleep-apnea-in-down-syndrome-benefits-of-surgery-and-noninvasive-respiratory-support
#6
Benjamin Dudoignon, Alessandro Amaddeo, Annick Frapin, Briac Thierry, Livio de Sanctis, Jorge Olmo Arroyo, Sonia Khirani, Brigitte Fauroux
Children with Down syndrome are at increased risk of obstructive sleep apnea (OSA). The aim of the study was to describe the management of OSA in a large cohort of children with Down syndrome. A retrospective analysis of sleep studies and consequent management was performed for all consecutive Down syndrome patients evaluated between September 2013 and April 2016. The data of 57 patients were analyzed: 51/53 had an interpretable overnight polygraphy and 4 the recording of nocturnal gas exchange. Mean age at baseline sleep study was 6...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544326/haploinsufficiency-of-nr4a2-is-associated-with-a-neurodevelopmental-phenotype-with-prominent-language-impairment
#7
Miriam S Reuter, Mandy Krumbiegel, Gregor Schlüter, Arif B Ekici, André Reis, Christiane Zweier
Non-recurrent deletions in 2q24.1, minimally overlapping two genes, NR4A2 and GPD2, were recently described in individuals with language impairment and behavioral and cognitive symptoms. We herewith report on a female patient with a similar phenotype of severe language and mild cognitive impairment, in whom we identified a de novo deletion covering only NR4A2. NR4A2 encodes a transcription factor highly expressed in brain regions critical for speech and language and implicated in dopaminergic neuronal development...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544249/37th-annual-david-w-smith-workshop-on-malformations-and-morphogenesis-abstracts-of-the-2016-annual-meeting
#8
Kim M Keppler-Noreuil, Julian A Martinez-Agosto, Louanne Hudgins, John C Carey
The 37th Annual David W. Smith Workshop on Malformations and Morphogenesis occurred on September 9th-14th, 2016 at the University of California-Los Angeles Conference Center in Lake Arrowhead, CA. The Workshop, which honors the legacy of David W. Smith, brought together clinicians and researchers interested in congenital malformations and their underlying mechanisms of morphogenesis. The Workshop highlighted five themes besides mechanisms of morphogenesis and New Syndromes: Neural Crestopathies, Mosaicism, Disorders of Skin Pigmentation, Therapies, and Ear Malformations and Hearing Loss...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544142/discordant-phenotypes-in-monozygotic-twins-with-16p11-2-microdeletions-including-the-sh2b1-gene
#9
Lin Li, Linhuan Huang, Shaobin Lin, Yanmin Luo, Qun Fang
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents...
May 24, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544699/renal-anomalies-and-lymphedema-distichiasis-syndrome-a-rare-association
#10
Gabriela E Jones, Anna K Richmond, Osric Navti, Hatem A Mousa, Stephen Abbs, Edward Thompson, Sahar Mansour, Pradeep C Vasudevan
Lymphedema distichiasis syndrome (LDS) is a rare, autosomal dominant genetic condition, characterized by lower limb lymphedema and distichiasis. Other associated features that have been reported include varicose veins, cleft palate, congenital heart defects, and ptosis. We update a previously reported family with a pathogenic variant in FOXC2 (c.412-413insT) where five affected individuals from the youngest generation had congenital renal anomalies detected on prenatal ultrasound scan. These included four fetuses with hydronephrosis and one with bilateral renal agenesis...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28544239/a-novel-variant-in-med12-gene-further-delineation-of-phenotype
#11
Dhanya L Narayanan, Shubha R Phadke
MED12 is a multiprotein mediator complex, which has a role in cell growth and differentiation and has been implicated in three distinct X-linked intellectual disability syndromes with distinctive clinical features. These include Opitz-Kaveggia syndrome (FG syndrome), Lujan syndrome, and X-linked Ohdo syndrome. Recently MED12 variants have been implicated in isolated X-linked intellectual disability. We describe a 5-year-old male patient with intellectual disability and facial dysmorphism and a novel variant in MED12 gene identified by Whole Exome Sequencing...
May 23, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28513979/identification-of-a-de-novo-variant-in-chuk-in-a-patient-with-an-eec-aec-syndrome-like-phenotype-and-hypogammaglobulinemia
#12
Kriti D Khandelwal, Charlotte W Ockeloen, Hanka Venselaar, Cécile Boulanger, Bénédicte Brichard, Etienne Sokal, Rolph Pfundt, Tuula Rinne, Ellen van Beusekom, Marjon Bloemen, Gerrit Vriend, Nicole Revencu, Carine E L Carels, Hans van Bokhoven, Huiqing Zhou
The cardinal features of Ectrodactyly, Ectodermal dysplasia, Cleft lip/palate (EEC), and Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndromes are ectodermal dysplasia (ED), orofacial clefting, and limb anomalies. EEC and AEC are caused by heterozygous mutations in the transcription factor p63 encoded by TP63. Here, we report a patient with an EEC/AEC syndrome-like phenotype, including ankyloblepharon, ED, cleft palate, ectrodactyly, syndactyly, additional hypogammaglobulinemia, and growth delay...
May 17, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28504353/cmip-haploinsufficiency-in-two-patients-with-autism-spectrum-disorder-and-co-occurring-gastrointestinal-issues
#13
Minjie Luo, Jinbo Fan, Tara L Wenger, Margaret H Harr, Melissa Racobaldo, Surabhi Mulchandani, Holly Dubbs, Elaine H Zackai, Nancy B Spinner, Laura K Conlin
Autism spectrum disorder (ASD) is a genetically heterogeneous group of disorders characterized by impairments in social communication and restricted interests. Though some patients with ASD have an identifiable genetic cause, the cause of most ASD remains elusive. Many ASD susceptibility loci have been identified through clinical studies. We report two patients with syndromic ASD and persistent gastrointestinal issues who carry de novo deletions involving the CMIP gene detected by genome-wide SNP microarray and fluorescence in situ hybridization (FISH) analysis...
May 15, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28498556/adaptive-and-maladaptive-functioning-in-kleefstra-syndrome-compared-to-other-rare-genetic-disorders-with-intellectual-disabilities
#14
Karlijn Vermeulen, Anneke de Boer, Joost G E Janzing, David A Koolen, Charlotte W Ockeloen, Marjolein H Willemsen, Floor M Verhoef, Patricia A M van Deurzen, Linde van Dongen, Hans van Bokhoven, Jos I M Egger, Wouter G Staal, Tjitske Kleefstra
Detailed neurobehavioural profiles are of major value for specific clinical management, but have remained underexposed in the population with intellectual disabilities (ID). This was traditionally classified based on IQ level only. Rapid advances in genetics enable etiology based stratification in the majority of patients, which reduces clinical heterogeneity. This paper illustrates that specific profiles can be obtained for rare syndromes with ID. Our main aim was to study (mal)adaptive functioning in Kleefstra Syndrome (KS) by comparing and contrasting our findings to three other subgroups: Koolen-de Vries Syndrome, GATAD2B-related syndrome, and a mixed control group of individuals with ID...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28498512/recurrent-atp2a2-p-pro602leu-mutation-differentiates-acrokeratosis-verruciformis-of-hopf-from-the-allelic-condition-darier-disease
#15
Anne Ronan, Angela Ingrey, Natalia Murray, Paul Chee
Darier disease and Acrokeratosis Verruciformis of Hopf (AKV) are rare disorders of keratinization with autosomal dominant inheritance and very distinct clinical pictures. Both have been shown to be caused by mutations in ATP2A2 (ATPase, Ca(++) transporting, cardiac muscle, slow-twitch) a gene encoding one of the SERCA (sarcoplasmic/endoplasmic reticulum calcium ATPase2) intracellular pumps with a crucial role in cell-to-cell adhesion in both skin and heart. While hundreds of different missense and nonsense mutations cause Darier disease, only one missense mutation, p...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28498505/autosomal-dominant-frontometaphyseal-dysplasia-delineation-of-the-clinical-phenotype
#16
Emma M Wade, Zandra A Jenkins, Philip B Daniel, Tim Morgan, Marie C Addor, Lesley C Adés, Debora Bertola, Axel Bohring, Erin Carter, Tae-Joon Cho, Christa M de Geus, Hans-Christoph Duba, Elaine Fletcher, Kinga Hadzsiev, Raoul C M Hennekam, Chong A Kim, Deborah Krakow, Eva Morava, Teresa Neuhann, David Sillence, Andrea Superti-Furga, Hermine E Veenstra-Knol, Dagmar Wieczorek, Louise C Wilson, David M Markie, Stephen P Robertson
Frontometaphyseal dysplasia (FMD) is caused by gain-of-function mutations in the X-linked gene FLNA in approximately 50% of patients. Recently we characterized an autosomal dominant form of FMD (AD-FMD) caused by mutations in MAP3K7, which accounts for the condition in the majority of patients who lack a FLNA mutation. We previously also described a patient with a de novo variant in TAB2, which we hypothesized was causative of another form of AD-FMD. In this study, a cohort of 20 individuals with AD-FMD is clinically evaluated...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497657/a-rapid-gene-sequencing-panel-strategy-to-facilitate-precision-neonatal-medicine
#17
Luca Brunelli, Rong Mao, Sabrina Malone Jenkins, Steven B Bleyl, Shale A Dames, Christine E Miller, Betsy Ostrander, Tatiana Tvrdik, Seth Andrews, Josue Flores, Shrena Patel, James M Gudgeon, Susan Schaefer
No abstract text is available yet for this article.
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497568/neuropsychological-phenotypes-of-76-individuals-with-joubert-syndrome-evaluated-at-a-single-center
#18
Angela C Summers, Joseph Snow, Edythe Wiggs, Alexander G Liu, Camilo Toro, Andrea Poretti, Wadih M Zein, Brian P Brooks, Melissa A Parisi, Sara Inati, Dan Doherty, Meghana Vemulapalli, Jim C Mullikin, Thierry Vilboux, William A Gahl, Meral Gunay-Aygun
Joubert syndrome (JS) is a genetically heterogeneous ciliopathy characterized by hypo-dysplasia of the cerebellar vermis, a distinct hindbrain/midbrain malformation (molar tooth sign), and intellectual disability. We evaluated the neuropsychological profiles of 76 participants with JS in the context of molecular genetics and clinical covariates. Evaluations included neuropsychological testing, structured parental interviews, DNA sequencing, brain magnetic resonance imaging (MRI), electroencephalography (EEG), ophthalmologic examination, and assessment for renal and hepatic disease...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28497491/male-child-with-somatic-mosaic-osteopathia-striata-with-cranial-sclerosis-caused-by-a-novel-pathogenic-amer1-frameshift-mutation
#19
Jennifer Hague, Isabelle Delon, Kim Brugger, Howard Martin, Leanne Sparnon, Ingrid Simonic, Stephen Abbs, Soo-Mi Park
Osteopathia striata with cranial sclerosis (OSCS; OMIM #300373) is a rare X-linked dominant condition caused by mutations in the AMER1 gene (also known as WTX or FAM123B). It is a condition which usually affects females in whom the clinical phenotype can be extremely variable. Conversely affected males typically die in utero or during the neonatal period [Perdu et al. (); Clinical Genetics 80: 383-388; Vasiljevic et al. (); Prenatal Diagnosis 35: 302-304]. There have been a small number of reported cases of surviving males, including three patients who are somatic mosaic for the condition [Chénier, Noor, Dupuis, Stavropoulos, & Mendoza-Londono, (); American Journal of Medical Genetics Part A 158A: 2946-2952; Holman et al...
May 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28489334/diagnosis-of-copan-by-whole-exome-sequencing-waking-up-a-sleeping-tiger-s-eye
#20
Christina Evers, Angelika Seitz, Birgit Assmann, Thomas Opladen, Stephanie Karch, Katrin Hinderhofer, Martin Granzow, Nagarajan Paramasivam, Roland Eils, Nicolle Diessl, Claus R Bartram, Ute Moog
Neurodegeneration with brain iron accumulation (NBIA) is a group of neurodegenerative disorders characterized by iron accumulation in the basal ganglia. Recently, mutations in CoA synthase (COASY) have been identified as a cause of a novel NBIA subtype (COASY Protein-Associated Neurodegeneration, CoPAN) in two patients with dystonic paraparesis, parkinsonian features, cognitive impairment, behavior abnormalities, and axonal neuropathy. COASY encodes an enzyme required for Coenzyme A (CoA) biosynthesis. Using whole exome sequencing (WES) we identified compound heterozygous COASY mutations in two siblings with intellectual disability, ataxic gait, progressive spasticity, and obsessive-compulsive behavior...
May 10, 2017: American Journal of Medical Genetics. Part A
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