| Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome. | Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome.
Ballios BG, Mandola A, Tayyib A, Tumber A, Garkaby J, Vong L, Heon E, Roifman CM, Vincent A., Free PMC Article | 12/15/2023 |
| Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature. | Whole genome sequencing identifies pathogenic RNU4ATAC variants in a child with recurrent encephalitis, microcephaly, and normal stature.
McMillan HJ, Davila J, Osmond M, Chakraborty P, Care4Rare Canada Consortium, Boycott KM, Dyment DA, Kernohan KD. | 02/19/2022 |
| this study shows the immunologic and hematologic systems of 3 patients with Roifman syndrome from 2 unrelated kindreds bearing RNU4ATAC variants | Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome.
Heremans J, Garcia-Perez JE, Turro E, Schlenner SM, Casteels I, Collin R, de Zegher F, Greene D, Humblet-Baron S, Lesage S, Matthys P, Penkett CJ, Put K, Stirrups K, National Institute for Health Research BioResource, Thys C, Van Geet C, Van Nieuwenhove E, Wouters C, Meyts I, Freson K, Liston A. | 08/24/2019 |
| the identification of a novel RNU4ATAC variant within the mutational hotspot for MOPD1-causative variants further strengthens the critical role of the 5' stem-loop structure of U4atac in health and disease. Finally, this analysis enabled us to provide prenatal diagnosis and genetic counselling for the mother's third pregnancy, the first report of its kind in the context of inherited RNU4ATAC variants. | Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper DN, Luo Y, Fang Q, Chen JM., Free PMC Article | 02/2/2019 |
| This report expands the phenotypic spectrum for biallelic RNU4ATAC disorder causing variants and is the first to establish the genetic cause for Lowry Wood syndrome | The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
Farach LS, Little ME, Duker AL, Logan CV, Jackson A, Hecht JT, Bober M., Free PMC Article | 01/12/2019 |
| We are thus confirming that RNU4ATAC is the gene responsible for LWS and provide a genotype-phenotype correlation analysis | Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype.
Shelihan I, Ehresmann S, Magnani C, Forzano F, Baldo C, Brunetti-Pierri N, Campeau PM. | 12/22/2018 |
| report on a novel 5.8 Mb deletion of 2q14.1q14.3 identified by array comparative genomic hybridization in a fetus with severe intrauterine growth retardation and partial agenesis of the corpus callosum. | A novel 2q14.1q14.3 deletion involving GLI2 and RNU4ATAC genes associated with partial corpus callosum agenesis and severe intrauterine growth retardation.
Goumy C, Gay-Bellile M, Salaun G, Kemeny S, Eymard-Pierre E, Biard M, Pebrel-Richard C, Vanlieferinghen P, Francannet C, Tchirkov A, Laurichesse H, Rouzade C, Gouas L, Vago P. | 10/21/2017 |
| We report here four foetuses and four unrelated patients with RNU4ATAC mutations. We provide antenatal descriptions of this rare syndrome including unusual features found in two twin foetuses with compound heterozygosity for two rare mutations who presented with mild intrauterine growth retardation and atypical dysmorphic facial features. | Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
Putoux A, Alqahtani A, Pinson L, Paulussen AD, Michel J, Besson A, Mazoyer S, Borg I, Nampoothiri S, Vasiljevic A, Uwineza A, Boggio D, Champion F, de Die-Smulders CE, Gardeitchik T, van Putten WK, Perez MJ, Musizzano Y, Razavi F, Drunat S, Verloes A, Hennekam R, Guibaud L, Alix E, Sanlaville D, Lesca G, Edery P. | 07/8/2017 |
| Mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing. | Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing.
Merico D, Roifman M, Braunschweig U, Yuen RK, Alexandrova R, Bates A, Reid B, Nalpathamkalam T, Wang Z, Thiruvahindrapuram B, Gray P, Kakakios A, Peake J, Hogarth S, Manson D, Buncic R, Pereira SL, Herbrick JA, Blencowe BJ, Roifman CM, Scherer SW., Free PMC Article | 05/21/2016 |
| This report establishes a mechanistic basis for MOPD I disease and show that the inefficient splicing of genes containing U12-dependent introns in patient cells is due to defects in minor tri-snRNP formation, and the MOPD I-associated RNU4ATAC mutations can affect multiple facets of minor snRNA function. | Biochemical defects in minor spliceosome function in the developmental disorder MOPD I.
Jafarifar F, Dietrich RC, Hiznay JM, Padgett RA., Free PMC Article | 08/16/2014 |
| Mutation in RNU4ATAC is associated with microcephalic osteodysplastic primordial dwarfism type I. | Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. | 10/19/2013 |
| the clinical and molecular data for 17 cases of Microcephalic osteodysplastic primordial dwarfism type I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene | Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, de la Chapelle A, Westman JA., Free PMC Article | 12/29/2012 |
| Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. These findings expand the mutational and phenotypic spectrum of this syndrome. | Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.
Abdel-Salam GM, Abdel-Hamid MS, Issa M, Magdy A, El-Kotoury A, Amr K. | 09/29/2012 |
| Oro-dental anomalies, pigmentary disorder and vasculopathy are found in MOPD1 patients. | A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
Abdel-Salam GM, Miyake N, Eid MM, Abdel-Hamid MS, Hassan NA, Eid OM, Effat LK, El-Badry TH, El-Kamah GY, El-Darouti M, Matsumoto N. | 02/11/2012 |
| identified 4 point mutations in U4atac snRNA component of minor spliceosome in patients with TALS; minor intron splicing was affected in cell lines from TALS; findings demonstrate crucial role of U4atac snRNA in early development and postnatal survival | Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.
Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL. | 04/23/2011 |
| findings show gene encoding U4atac snRNA is mutated in individuals with MOPD I; mutations (30G>A, 51G>A, 55G>A, and 111G>A) associated with MOPD I cause defective U12-dependent splicing | Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.
He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A., Free PMC Article | 04/23/2011 |