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Agenesis of the corpus callosum

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https://www.readbyqxmd.com/read/29232904/an-expanded-multi-organ-disease-phenotype-associated-with-mutations-in-yars
#1
Anna Tracewska-Siemiątkowska, Lonneke Haer-Wigman, Danielle G M Bosch, Deborah Nickerson, Michael J Bamshad, Maartje van de Vorst, Nanna Dahl Rendtorff, Claes Möller, Ulrika Kjellström, Sten Andréasson, Frans P M Cremers, Lisbeth Tranebjærg
Whole exome sequence analysis was performed in a Swedish mother-father-affected proband trio with a phenotype characterized by progressive retinal degeneration with congenital nystagmus, profound congenital hearing impairment, primary amenorrhea, agenesis of the corpus callosum, and liver disease. A homozygous variant c.806T > C, p.(F269S) in the tyrosyl-tRNA synthetase gene (YARS) was the only identified candidate variant consistent with autosomal recessive inheritance. Mutations in YARS have previously been associated with both autosomal dominant Charcot-Marie-Tooth syndrome and a recently reported autosomal recessive multiorgan disease...
December 11, 2017: Genes
https://www.readbyqxmd.com/read/29199884/congenital-cavitary-optic-disc-anomaly-and-axenfeld-s-anomaly-in-wolf-hirschhorn-syndrome-a-case-report-and-review-of-the-literature
#2
Mohsin H Ali, Nathalie F Azar, Vinay Aakalu, Felix Y Chau, Javaneh Abbasian, Pete Setabutr, Irene H Maumenee
BACKGROUND: Wolf-Hirschhorn syndrome is a rare genetic syndrome caused by a heterozygous deletion on chromosome 4p16.3 and is characterized by a "Greek warrior helmet" facies, hypotonia, developmental delay, seizures, structural central nervous system defects, intrauterine growth restriction, sketelal anomalies, cardiac defects, abnormal tooth development, and hearing loss. A variety of ocular manifestations may occur in up to 40% of patients. MATERIALS/METHODS: We report the genetic testing results, systemic findings, and complete ophthalmologic examination findings in a patient with Wolf-Hirschhorn syndrome, including external photography, RetCam3 (Clarity Medical Systems, Pleasonton, CA) goniography, and fundus photography...
December 4, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29193896/in-utero-ultrasound-diagnosis-of-corpus-callosum-agenesis-leading-to-the-identification-of-orofaciodigital-type-1-syndrome-in-female-fetuses
#3
Caroline Alby, Lucile Boutaud, Maryse Bonnière, Sophie Collardeau-Frachon, Laurent Guibaud, Estelle Lopez, Ange-Line Bruel, Bernard Aral, Pascale Sonigo, Philippe Roth, Claude Vibert-Guigue, Vanina Castaigne, Bruno Carbonne, Nicole Joyé, Laurence Faivre, Marie-Pierre Cordier, Antoinette Bernabe Gelot, Maurizio Clementi, Isabella Mammi, Michel Vekemans, Féréchté Razavi, Marie Gonzales, Christel Thauvin-Robinet, Tania Attié-Bitach
BACKGROUND: OFD1 syndrome is a rare ciliopathy inherited on a dominant X-linked mode, typically lethal in males in the first or second trimester of pregnancy. It is characterized by oral cavity and digital anomalies possibly associated with cerebral and renal signs. Its prevalence is between 1/250,000 and 1/50,000 births. It is due to heterozygous mutations of OFD1 and mutations are often de novo (75%). Familial forms show highly variable phenotypic expression. OFD1 encodes a protein involved in centriole growth, distal appendix formation, and ciliogenesis...
November 28, 2017: Birth Defects Research
https://www.readbyqxmd.com/read/29191162/severe-congenital-microcephaly-with-16p13-11-microdeletion-combined-with-nde1-mutation-a-case-report-and-literature-review
#4
Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao, Xuelian He
BACKGROUND: Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important contributors. CASE PRESENTATION: Single nucleotide polymorphism (SNP) chromosomal microarray analysis (CMA) and muation screening of NDE1 gene were performed in an 8-month patient with severe congenital microcephaly, and/or his parents. Genetic studies found a 16p13...
December 1, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/29175559/desmosterolosis-presenting-with-multiple-congenital-anomalies
#5
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/29159066/six-adult-patients-with-septo-optic-dysplasia-and-drug-resistant-epilepsy-clinical-findings-and-course
#6
Mashael AlKhateeb, Richard McLachlan, Jorge Burneo, David Diosy, Seyed Mirsattari
Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29136349/clinical-delineation-of-a-subtype-of-frontonasal-dysplasia-with-creased-nasal-ridge-and-upper-limb-anomalies-report-of-six-unrelated-patients
#7
Daphné Lehalle, Umut Altunoglu, Ange-Line Bruel, Eric Arnaud, Patricia Blanchet, Jong-Woo Choi, Julie Désir, Esra Kiliç, Damien Lederer, Lucile Pinson, Christel Thauvin-Robinet, Amihood Singer, Julien Thevenon, Patrick Callier, Hulya Kayserili, Laurence Faivre
Frontonasal dysplasias are rare congenital malformations of frontonasal process-derived structures, characterized by median cleft, nasal anomalies, widely spaced eyes, and cranium bifidum occultum. Several entities of syndromic frontonasal dysplasia have been described, among which, to date, only a few have identified molecular bases. We clinically ascertained a cohort of 124 individuals referred for frontonasal dysplasia. We identified six individuals with a similar phenotype, including one discordant monozygous twin...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29130579/a-homozygous-deleterious-cdk10-mutation-in-a-patient-with-agenesis-of-corpus-callosum-retinopathy-and-deafness
#8
Vincent J Guen, Simon Edvardson, Nitay D Fraenkel, Aviva Fattal-Valevski, Chaim Jalas, Irene Anteby, Avraham Shaag, Talia Dor, David Gillis, Eitan Kerem, Jacqueline A Lees, Pierre Colas, Orly Elpeleg
The primary cilium is a key organelle in numerous physiological and developmental processes. Genetic defects in the formation of this non-motile structure, in its maintenance and function, underlie a wide array of ciliopathies in human, including craniofacial, brain and heart malformations, and retinal and hearing defects. We used exome sequencing to study the molecular basis of disease in an 11-year-old female patient who suffered from growth retardation, global developmental delay with absent speech acquisition, agenesis of corpus callosum and paucity of white matter, sensorineural deafness, retinitis pigmentosa, vertebral anomalies, patent ductus arteriosus, and facial dysmorphism reminiscent of STAR syndrome, a suspected ciliopathy...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29091783/neurodevelopmental-outcome-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#9
Lise Folliot-Le Doussal, Alexandra Chadie, Marie Brasseur-Daudruy, Eric Verspyck, Pascale Saugier-Veber, Stéphane Marret
Neurodevelopmental outcome in children with agenesis of the corpus callosum (ACC) is correlated with the presence or absence of associated brain abnormalities. Indeed, neurodevelopmental outcome shows severe disabilities when the ACC is not isolated whereas in isolated forms, the neurologic development is mainly normal. Contrary to data in several published studies, the prognosis remains uncertain even in isolated forms, which may lead in France to medical termination of pregnancy. OBJECTIVE: To evaluate long-term neurodevelopmental outcome in children with prenatally diagnosed isolated ACC...
October 29, 2017: Early Human Development
https://www.readbyqxmd.com/read/29068161/dcc-mutation-update-congenital-mirror-movements-isolated-agenesis-of-the-corpus-callosum-and-developmental-split-brain-syndrome
#10
Ashley Pl Marsh, Timothy J Edwards, Charles Galea, Helen M Cooper, Elizabeth C Engle, Saumya S Jamuar, Aurélie Méneret, Marie-Laure Moutard, Caroline Nava, Agnès Rastetter, Gail Robinson, Guy Rouleau, Emmanuel Roze, Megan Spencer-Smith, Oriane Trouillard, Thierry Billette de Villemeur, Christopher A Walsh, Timothy W Yu, Delphine Heron, Elliott H Sherr, Linda J Richards, Christel Depienne, Richard J Leventer, Paul J Lockhart
The deleted in colorectal cancer (DCC) gene encodes the netrin-1 receptor DCC, a transmembrane protein required for the guidance of commissural axons. Germline DCC mutations disrupt the development of predominantly commissural tracts in the central nervous system (CNS) and cause a spectrum of neurological disorders. Monoallelic, missense and predicted loss-of-function DCC mutations cause congenital mirror movements, isolated agenesis of the corpus callosum, or both. Biallelic, predicted loss-of-function DCC mutations cause developmental split brain syndrome...
October 25, 2017: Human Mutation
https://www.readbyqxmd.com/read/29065696/enhanced-white-matter-integrity-in-corpus-callosum-of-long-term-brahmakumaris-rajayoga-meditators
#11
Kanishka Sharma, Richa Trivedi, Ashok Kumar Dubey, Kavita Singh, Pawan Kumar, Prabhjot Kaur, Sushil Chandra, Subash Khushu
Meditation has a versatile nature to affect the cognitive functioning of human brain. Recent researches demonstrated its effects on white matter properties of the human brain. In this research, we aim to investigate white matter microstructure of corpus callosum (CC) in long-term meditators (LTM) of rajayoga meditation using diffusion tensor imaging (DTI). For this cross-sectional analysis, twenty-two LTM and seventeen control participants of age ranged (30-50 yrs.) were recruited. Results show high fractional anisotropy (FA) values with low mean diffusivity (MD) in whole as well as different segments of CC in LTM group...
October 25, 2017: Brain Connectivity
https://www.readbyqxmd.com/read/29025168/-a-model-explaining-infantile-esotropia-dissociated-strabismus-as-a-result-of-sensory-interhemispheric-dissociation-and-crossed-dominance-in-the-brainstem
#12
Marcel Paulus Ten Tusscher
Over 150 million years, modern reptiles, birds and mammals evolved. Predatory birds and mammals have eyes on the front of their heads. In these animals, binocular correspondence, voluntary eye movements, eye-hand coordination, partial decussation at the optic chiasm and cortical interhemispheric pathways could develop at the cost of a smaller visual field. The subsequent enlargement of the cerebral neocortex and the hemispheric pathways are of central importance in binocular vision, sensory fusion and infantile strabismus...
October 2017: Klinische Monatsblätter Für Augenheilkunde
https://www.readbyqxmd.com/read/29017365/is-the-presence-of-corpus-callosum-predictable-in-the-first-trimester
#13
Hakan Kalaycı, Ebru Tarım, Halis Özdemir, Tayfun Çok, Ayşe Parlakgümüş
Corpus callosum agenesis (CCA) is a clinical condition accompanied by various aneuploidy and genetic syndromes. We identified the development of the corpus callosum (CC) in 278 patients before 18 weeks of gestational age by visualising the pericallosal artery (PCA) in the callosal sulcus and changes in the lengths and ratios of the midbrain (MB) and falx (F), which suggested elevation of the third ventricle and thalamus due to CCA in the first trimester. We succeeded in visualising the path of the PCA in 273 patients...
October 10, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28947381/outcome-of-isolated-agenesis-of-the-corpus-callosum-a-population-based-prospective-study
#14
Vincent des Portes, Anne Rolland, Juan Velazquez-Dominguez, Emeline Peyric, Marie-Pierre Cordier, Pascal Gaucherand, Jérôme Massardier, Mona Massoud, Aurore Curie, Anne-Sophie Pellot, François Rivier, Audrey Lacalm, Amélie Clément, Dorothée Ville, Laurent Guibaud
OBJECTIVES: Neurodevelopmental outcome of apparently isolated agenesis of the corpus callosum (ACC) remains a major concern with uncertain prognosis. Despite "normal" IQ reported in a majority of patients, the rates of learning disabilities and severe outcome (ranging from 0% to 20%) are not clearly established. METHODS: A large population-based series was investigated based on a longitudinal follow-up until school age, using Wechsler Intelligence scales at 3, 5, and 7 years...
September 5, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28946151/the-incidence-of-chromosomal-aberrations-in-prenatally-diagnosed-isolated-agenesis-of-the-corpus-callosum
#15
Anna Marlene Rüland, Karl-Philipp Gloning, Matthias Albig, Karl-Oliver Kagan, Rüdiger Hammer, Michael Schälike, Christoph Berg, Ulrich Gembruch, Annegret Geipel
Purpose To establish the prevalence of chromosomal aberrations in fetuses with an apparently isolated agenesis of the corpus callosum (ACC) on prenatal ultrasound. Materials & Methods This was a retrospective study of complete isolated ACC at the time of ultrasound evaluation with respect to karyotype information. Within this group, a subgroup with non-malformation minor abnormalities, such as a single umbilical artery (SUA), polyhydramnios or fetal growth restriction (FGR), was investigated. Results Complete ACC was diagnosed in 343 cases...
September 25, 2017: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/28921563/advanced-genomic-testing-may-aid-in-counseling-of-isolated-agenesis-of-the-corpus-callosum-on-prenatal-ultrasound
#16
M C de Wit, F Boekhorst, G M Mancini, L S Smit, I A L Groenenberg, J Dudink, F A T de Vries, A T J I Go, R J H Galjaard
OBJECTIVE: Isolated agenesis of the corpus callosum (ACC) on fetal ultrasound has a varied prognosis. Microarray and exome sequencing might aid in prenatal counseling. METHOD: This study includes 25 fetuses with apparently isolated complete ACC (cACC) on ultrasound. All cases were offered SNP array. Complementary exome sequencing (ES) was offered postnatally in selected cases. Clinical physical and neurodevelopmental follow-up was collected. RESULTS: Eighteen cases opted for SNP array testing, which detected a causal anomaly in 2/18(11...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28893526/neural-correlates-of-working-memory-in-children-and-adolescents-with-agenesis-of-the-corpus-callosum-an-fmri-study
#17
V Siffredi, M M Spencer-Smith, P Barrouillet, M J Vaessen, R J Leventer, V Anderson, P Vuilleumier
The ability to temporarily maintain relevant information in mind in the presence of interference or distracting information, also called working memory (WM), is critical for higher cognitive functions and cognitive development. In typically developing (TD) children, WM is underpinned by a fronto-parietal network of interacting left and right brain regions. Developmental absence (agenesis) of the corpus callosum (AgCC) is a congenital brain malformation resulting from disruption of corpus callosum formation...
September 9, 2017: Neuropsychologia
https://www.readbyqxmd.com/read/28828134/prenatal-and-postnatal-evaluation-of-polymicrogyria-with-band-heterotopia
#18
Usha D Nagaraj, Robert Hopkin, Mark Schapiro, Beth Kline-Fath
The coexistence of band heterotopia and polymicrogyria is extremely rare though it has been reported in the presence of corpus callosum anomalies and megalencephaly. We present prenatal and postnatal MRI findings of a rare case of diffuse cortical malformation characterized by polymicrogyria and band heterotopia. Agenesis of the corpus callosum and megalencephaly were also noted. In addition, bilateral closed-lip schizencephaly was identified on postnatal MRI, which has not been previously reported with this combination of imaging findings...
September 2017: Radiology Case Reports
https://www.readbyqxmd.com/read/28825856/the-use-of-variant-maps-to-explore-domain-specific-mutations-of-fgfr1
#19
L A Lansdon, H V Bernabe, N Nidey, J Standley, M J Schnieders, J C Murray
Here we describe the genotype-phenotype correlations of diseases caused by variants in Fibroblast Growth Factor Receptor 1 ( FGFR1) and report a novel, de novo variant in FGFR1 in an individual with multiple congenital anomalies. The proband presented with bilateral cleft lip and palate, malformed auricles, and bilateral ectrodactyly of his hands and feet at birth. He was later diagnosed with diabetes insipidus, spastic quadriplegia, developmental delay, agenesis of the corpus callosum, and enlargement of the third cerebral ventricle...
October 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28815871/clinical-and-molecular-characterization-of-de-novo-loss-of-function-variants-in-hnrnpu
#20
Magalie S Leduc, Hsiao-Tuan Chao, Chunjing Qu, Magdalena Walkiewicz, Rui Xiao, Pilar Magoulas, Shujuan Pan, Joke Beuten, Weimin He, Jonathan A Bernstein, Christian P Schaaf, Fernando Scaglia, Christine M Eng, Yaping Yang
DNA alterations in the 1q43-q44 region are associated with syndromic neurodevelopmental disorders characterized by global developmental delay, intellectual disability, dysmorphic features, microcephaly, seizures, and agenesis of the corpus callosum. HNRNPU is located within the 1q43-q44 region and mutations in the gene have been reported in patients with early infantile epileptic encephalopathy. Here, we report on the clinical presentation of four patients with de novo heterozygous HNRNPU loss-of-function mutations detected by clinical whole exome sequencing: c...
October 2017: American Journal of Medical Genetics. Part A
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