A novel mutation in RNU4ATAC in a patient with microcephalic osteodysplastic primordial dwarfism type I

American Journal of Medical Genetics, Part A

Volumn 167, Issue 4, 2015, Pages 919-921

  Kilic, Esra ^a   Yigit, Gökhan ^b   Utine, Gülen Eda ^a   Wollnik, Bernd ^b   Mihci, Ercan ^c   Nur, Banu Güzel ^c   Boduroglu, Koray ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF COLOGNE   (Germany)

^c AKDENIZ UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

IMMUNOGLOBULIN G; RNU4ATAC RNA, HUMAN; SMALL NUCLEAR RNA;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOODY DIARRHEA; BONE RADIOGRAPHY; CASE REPORT; ECHOCARDIOGRAPHY; GENE; HEARING TEST; HEART ATRIUM SEPTUM DEFECT; HUMAN; HYPERTENSION; INFANT; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I; MILD HEPATIC IMPAIRMENT; MUSCLE HYPOTONIA; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PERCEPTION DEAFNESS; PHENOTYPE; PNEUMONIA; PREGNANCY; PRIORITY JOURNAL; RECURRENT DISEASE; RNU4ATAC GENE; SEQUENCE ANALYSIS; VOMITING; DWARFISM; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION; GENETICS; MICROCEPHALY; NUCLEOTIDE SEQUENCE; OSTEOCHONDRODYSPLASIAS; POINT MUTATION;

DNA MUTATIONAL ANALYSIS; DWARFISM; FETAL GROWTH RETARDATION; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; MALE; MICROCEPHALY; OSTEOCHONDRODYSPLASIAS; POINT MUTATION; RNA, SMALL NUCLEAR;

EID: 84925584840     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36955     Document Type: Article

References (13)

1. 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. 2011. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder. Am J Med Genet 155A:2885-2896.
2. Abdel-Salam GM, Abdel-Hamid MS, Hassan NA, Issa MY, Effat L, Ismail S, Aglan MS, Zaki MS. 2013. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I. Am J Med Genet 161A:1875-1881.
3. 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. 2011. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science 332:240-243.
4. 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. 2011. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science 332:238-240.
5. Majewski F, Stoeckenius M, Kemperdick H. 1982. Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles-osteodysplastic primordial dwarfism type III. Am J Med Genet 12:37-42.
6. Meinecke P, Passarge E. 1991. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med G 28:795-800.
7. Nagy R, Wang H, Albrecht B, Wieczorek D, Gillessen-Kaesbach G, Haan E, Meinecke P, Haan E, de la Chapelle A, Westman JA. 2012. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet 82:140-146.
8. Pierce MJ, Morse RP. 2012. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): Case report and review of the literature. Am J Med Genet 158A:606-610.
9. Taybi H, Linder D. 1967. Congenital familial dwarfism with cephalo skeletal dwarfism. Radiology 89:275-281.
10. Taybi H. 1992. Letter to the Editor. Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome). Am J Med Genet 43:628-629.
11. Vichi GF, Currarino G, Wasserman RL, Duvina PL, Filippi L. 2000. Cephaloskeletal dysplasia (Taybi-Linder syndrome: Osteodysplastic primordial dwarfism type III): Report of two cases and review of the literature. Pediatr Radiol 30:644-652.
12. Winter RM, Wigglesworth J, Harding BN. 1985. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Am J Med Genet 21:569-574.
13. Zuker M. 2003. Mfold web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res 31:3406-3415.