Results 41 to 50 of about 60,851 (220)

Case Report: Hypomyelinating Leukodystrophy Type 20 (HLD20) With Novel CNP Gene Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This case report describes a child with hypomyelinating leukodystrophy type 20 (HLD20), a rare neurodegenerative disorder characterized by impaired myelin formation. The patient presented with multiple neurodevelopmental abnormalities, including delayed motor milestones, seizures, and abnormal facial features.
Malak Alghamdi, Ghaida Alghamdi, Khalid Hundallah, Dima Jamjoom, Naif Almontashiri, Essa Alharbi, Muhammad Umair, Majid Alfadhel   +7 more
wiley   +1 more source

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome [PDF]

, 2012
A homozygous mutational change in the Ataxia-Telangiectasia and RAD3 related (ATR) gene was previously reported in two related families displaying Seckel Syndrome (SS). Here, we provide the first identification of a Seckel Syndrome patient with mutations
A Ciccia, A Klingseisen, A Rauch, A. Malcolm R. Taylor, AD Borglum, Andrew O. M. Wilkie, D Cortez, DL Guernsey, E Griffith, E Kalay, EA Nam, Emma Hobson, EN Noensie, F Majewski, Gillian Carpenter, GK Alderton, GK Thornton, Grant S. Stewart, HL Ball, IM Ward, J Falck, J Goodship, JG Hall, Katrina Prescott, L Zou, LI Toledo, LS Bicknell, LS Bicknell, M Murga, M O'Driscoll, M Willems, Margaret Barrow, Mark O'Driscoll, Michiko Matsuse, Mohnish Suri, MS Al-Dosari, ND Lakin, Norisato Mitsutake, P Qvist, Penny A. Jeggo, Philip J. Byrd, PR Andreassen, Pradeep Vasudevan, RA Chanoux, RJ Gorlin, SA de Munnik, Sarah Walker, Siripan Limsirichaikul, Tom Stiff, Tomoo Ogi, V Paciotti, Y Namiki, Yuka Nakazawa   +52 more
core   +5 more sources

Two New Cases Expand the Phenotypic Spectrum of TUBG1 Missense Variants

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The gamma‐tubulin ring complex (γ‐TuRC) plays a role in coordinating centrosome and spindle pole body formation during cell division. TUBG1 encodes a critical component of the γ‐TuRC. Pathogenic TUBG1 variants can cause a range of alterations in cortical gyral patterning, microcephaly, and other neurological manifestations.
Roser Urreizti, Jessica Vissicchio, Mohamed Idries, Monica Cozar, Raquel Rabionet, Tyhiesia Donald, Elizabeth J. Bhoj, Tomoki T. Nomakuchi, Shannon C. Shipley, Andrew E. Timms, Ghayda M. Mirzaa, Mercedes Serrano, Andrew K. Sobering   +12 more
wiley   +1 more source

Experimental Zika Virus Infection in the Pregnant Common Marmoset Induces Spontaneous Fetal Loss and Neurodevelopmental Abnormalities. [PDF]

, 2018
During its most recent outbreak across the Americas, Zika virus (ZIKV) was surprisingly shown to cause fetal loss and congenital malformations in acutely and chronically infected pregnant women.
Aagaard, Kjersti M, Castro, Eumenia CC, Chiu, Charles Y, Giavedoni, Luis, Hodara, Vida L, Layne-Colon, Donna, Li, Tony, Martyn, Calla, Parodi, Laura M, Patterson, Jean L, Reyes, Kevin, Rutherford, Julienne, Seferovic, Maxim, Suter, Melissa A, Sánchez-San Martín, Claudia, Tamhankar, Manasi, Tardif, Suzette D, Yagi, Shigeo   +17 more
core   +2 more sources

Phenotypic Characterization of Seven Pediatric Patients Diagnosed With KAT6B‐Related Disorders: Case Series and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genitopatellar syndrome (GPS) and Say‐Barber‐Biesecker‐Young‐Simpson Syndrome (SBBYSS) are clinically distinct neurodevelopmental disorders caused by monoallelic pathogenic variants in KAT6B. In some cases, GPS and SBBYSS features can overlap, determining an intermediate phenotype.
Vittorio Maglione, Antonio Pizzuti, Gioia Mastromoro, Eleonora Cresta, Paola Favata, Maria Cristina Digilio, Rossella Capolino, Maria Lisa Dentici, Lorenzo Sinibaldi, Antonio Novelli, Marco Tartaglia, Gianluca Terrin, Viviana Cardilli   +12 more
wiley   +1 more source

Effects of the Missense Variants on Complete Phenotype and Splicing Variant on Severe Growth Retardation in the BPTF Gene. [PDF]

Dev Neurobiol
ABSTRACT Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM no #617755) is an ultra‐rare syndrome associated with heterozygous pathogenic variants in the BPTF gene. Haploinsufficiency of the BPTF gene, a chromatin remodeling gene that is related to epigenetic modification, is the cause of this disease.
Ünsel-Bolat G, Gerik-Celebi HB, Durgut BD, Türkyılmaz A, Bolat H.   +4 more
europepmc   +2 more sources

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah, Neora Shifrin, Mary Ellen Keogh, Elaine Marchi, Maureen Gavin, Karen Amble, Gholson J. Lyon   +6 more
wiley   +1 more source

Mathematical modeling of Zika disease in pregnant women and newborns with microcephaly in Brazil

, 2017
We propose a new mathematical model for the spread of Zika virus. Special attention is paid to the transmission of microcephaly. Numerical simulations show the accuracy of the model with respect to the Zika outbreak occurred in Brazil.Comment: This is a ...
Area, Ivan, Ndairou, Faical, Nieto, Juan J., Silva, Cristiana J., Torres, Delfim F. M.   +4 more
core   +1 more source

Full genome sequence and sfRNA interferon antagonist activity of Zika virus from Recife, Brazil [PDF]

, 2016
Background: The outbreak of Zika virus (ZIKV) in the Americas has transformed a previously obscure mosquito-transmitted arbovirus of the Flaviviridae family into a major public health concern.
Biek, Roman, Brennan, Benjamin, Clark, Jordan J., Cordeiro, Marli T., Cumberworth, Stephanie L., Da Silva Filipe, Ana, Davis, Christopher, Donald, Claire L., Fall, Gamou, Freitas de Oliveira França, Rafael, Hughes, Joseph, Kohl, Alain, Lindenbach, Brett D., McLauchlan, John, Owsianka, Anna M., Patel, Arvind H., Pena, Lindomar J., Rehwinkel, Jan, Rezelj, Veronica V., Sall, Amadou A., Schnettler, Esther, Selinger, Martin, Varjak, Margus, Wilkie, Gavin S., Zuvanov, Luíza   +24 more
core   +3 more sources

Chromosome 3q22.2‐q26.2 Interstitial Deletion in a Patient With Wisconsin Syndrome, Blepharophimosis‐Ptosis‐Epicanthus Inversus Syndrome, Dandy‐Walker Malformation, Pierre Robin Sequence, and Recurrent Infections

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Wisconsin syndrome is a very rare genetic condition characterized by coarse facies, prominent nasal tip, bushy high arched/upsweeping eyebrows, and a full/everted lower lip. Deletion of chromosome 3q24q25 region is considered critical for its manifestation.
Pankaj Prasun, Sonja Henry, Vivek Balasubramaniam   +2 more
wiley   +1 more source