A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

American Journal of Medical Genetics, Part A

Volumn 155, Issue 11, 2011, Pages 2885-2896

  Abdel Salam, Ghada M H ^a   Miyake, Noriko ^b   Eid, Maha M ^a   Abdel Hamid, Mohamed S ^a   Hassan, Nihal A ^c   Eid, Ola M ^a   Effat, Laila K ^a   El Badry, Tarek H ^a   El Kamah, Ghada Y ^a   El Darouti, Mohamed ^c   Matsumoto, Naomichi ^b  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^c CAIRO UNIVERSITY   (Egypt)

Author keywords

Abnormal gyral pattern; Chilblains; Fair skin; Hypogenesis of corpus callosum; Microcephalic osteodysplastic primordial dwarfism I (MOPD I); Microdontia; Pigmentary disorder; Retinal pigmentation; U4atac snRNA; Vasculopathy

Indexed keywords

GENOMIC DNA;

ADOLESCENT; ARTICLE; BIPARIETAL DISTANCE; BIRTH WEIGHT; BODY HEIGHT; BRAIN HEMORRHAGE; CASE REPORT; CHIBLAIN LIKE LESION; CHORIORETINAL HYPOPIGMENTATION; COMPUTER ASSISTED TOMOGRAPHY; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; DISEASE ASSOCIATION; DWARFISM; FEMALE; FETUS ECHOGRAPHY; GENE; GENE MUTATION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HUMAN; INTRAUTERINE GROWTH RETARDATION; MALE; MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM TYPE I; MICROCEPHALY; NUCLEAR MAGNETIC RESONANCE IMAGING; OLIGOHYDRAMNIOS; PHENOTYPIC VARIATION; PIGMENT DISORDER; PRIORITY JOURNAL; RNU4ATAC GENE; SAMHD1 GENE; SKELETON MALFORMATION; SKIN DEFECT; TOOTH MALFORMATION; TREX1 GENE;

ADOLESCENT; AGENESIS OF CORPUS CALLOSUM; CHILD, PRESCHOOL; CONSANGUINITY; DEVELOPMENTAL DISABILITIES; DWARFISM; FEMALE; FETAL GROWTH RETARDATION; GENOTYPE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICROCEPHALY; MUTATION; OSTEOCHONDRODYSPLASIAS; PEDIGREE; PHYSICAL EXAMINATION; PIGMENTATION DISORDERS; PREGNANCY; PREGNANCY TRIMESTER, THIRD; RNA, SMALL NUCLEAR; SIBLINGS;

EID: 80054918989     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.34299     Document Type: Article

References (40)

1. Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS. 2010. Novel CENPJ mutation causes Seckel syndrome. J Med Genet 47:411-414.
2. Berger A, Haschke N, Kohlhauser C, Amman G, Unterberger U, Weninger M. 1998. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism. J Med Genet 35:61-64.
3. Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK. 2010. Majewski osteodysplastic primordial dwarfism type II (MOPD II): Expanding the vascular phenotype. Am J Med Genet Part A 152A:960-965.
4. Brackeen A, Babb-Tarbox M, Smith J. 2007. Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome. Pediatr Dermatol 24:53-56.
5. Brancati F, Castori M, Mingarelli R, Dallapiccola B. 2005. Majewski osteodysplastic primordial dwarfism type II (MOPD II) complicated by stroke: Clinical report and review of cerebral vascular anomalies. Am J Med Genet Part A 139A:212-215.
6. Buebel MS, Salinsas CF, Pai GS, Macpherson RI, Greer MK, Perez-Comas A. 1996. A new Seckel-like syndrome of primordial dwarfism. Am J Med Genet 64:447-452.
7. Castro-Gago M, Pombo M, Novo I, Tojo R, Pena J. 1983. Syndrome familiar de microcefalia con albinismo oculocutaneo y anomalies digitales. Ann Esp Pediatr 19:128-131.
8. D'Angelo VA, Ceddia AM, Zelante L, Florio FP. 1998. Multiple intracranial aneurysms in a patient with Seckel syndrome. Childs Nerv Syst 14:82-84.
9. Eason J, Hall CM, Trounce JQ. 1995. Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism. J Med Genet 32:234-235.
10. Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk P-S, 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 minors splicing component U4ATAC snRNA. Science 332:240-243.
11. Griffith E, Walker S, Martin CA, Vagnarelli P, Stiff T, Vernay B, Al Sanna N, Saggar A, Hamel B, Earnshaw WC, Jeggo PA, Jackson AP, O'Driscoll M. 2008. Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling. Nat Genet 40:232-236.
12. Graveley BR. 2008. The haplo-spliceo-transcriptome: Common variations in alternative splicing in the human population. Trends Genet 24:5-7.
13. Guirgis MF, Lam BL, Howard CW. 2001. Ocular manifestations of Seckel syndrome. Am J Ophthalmol 132:596-597.
14. Haan EA, Furness ME, Knowles S, Morris LL, Scott G, Svigos JM, Vigneswaren R. 1989. Osteodysplastic primordial dwarfism: Report of a further case with manifestations similar to those of types I and III. Am J Med Genet 33:224-227.
15. 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.
16. Heli K, Pessa J, Frilander MJ. 2011. Minor splicing, disrupted. Science 332:184-185.
17. Hersh JH, Joyce MR, Spranger J, Goatley EC, Lachman RS, Bhatt S, Rimoin DL. 1994. Microcephalic oseteodysplastic dysplasia. Am J Med Genet 51:194-199.
18. Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF. 2011. Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III. Acta Neuropathol 121:545-554.
19. Kantaputra PN, Tanpaiboon P, Unachak K, Praphanphoj V. 2004. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: Confirmation of a new syndrome. Am J Med Genet Part A 130A:181-190.
20. Kantaputra P, Tanpaiboon P, Porntaveetus T, Ohazama A, Sharpe P, Rauch A, Hussadaloy A, Thiel CT. 2011. The smallest teeth in the world are caused by mutations in the PCNT gene. Am J Med Genet Part A 155A:1398-1403.
21. Kjaer I, Hansen N, Becktor KB, Birkebaek N, Balslev T. 2001. Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome. Cleft Palate Craniofac J 38:645-651.
22. Klinge L, Schaper J, Wieczorek D, Voit T. 2002. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: A case report and review of the literature. Neuropediatrics 33:309-313.
23. Lee-Kirsch MA, Chowdhury D, Harvey S, Gong M, Senenko L, Engel K, Pfeiffer C, Hollis T, Gahr M, Perrino FW, Lieberman J, Hubner N. 2007. A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. J Mol Med 85:531-537.
24. Maclean K, Amblerb G, Flahertyc M, Kozlowskid K, Adès LC. 2002. A variant microcephalic osteodysplastic slender bone disorder with growth hormone deficiency and a pigmentary retinopathy. Clin Dysmorphol 11:255-260.
25. 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.
26. Meinecke P, Passarge E. 1991. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. J Med Genet 28:795-800.
27. Meinecke P, Schaefer E, Wiedemann HR. 1991. Microcephalic osteodysplastic primordial dwarfism: Further evidence for identity of the so-called types I and III. Am J Med Genet 39:232-236.
28. Nishimura G, Hasegawa T, Fujno M, Hoi N, Tomitas Y. 2003. Microcephalic osteodysplastic primordial short stature type II with café-au-lait spots and moyamoya disease. Am J Med Genet Part A 117A:299-301.
29. Rauch A, Thiel CT, Schindler D, Wick U, Crow YJ, Ekici AB, van Essen AJ, Goecke TO, Al-Gazali L, Chrzanowska KH, Zweier C, Brunner HG, Becker K, Curry CJ, Dallapiccola B, Devriendt K, Dorfler A, Kinning E, Megarbane A, Meinecke P, Semple RK, Spranger S, Toutain A, Trembath RC, Voss E, Wilson L, Hennekam R, de Zegher F, Dorr HG, Reis A. 2008. Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science 319:816-819.
30. Shebib S, Hugosson C, Sakati N, Nyhan WL. 1991. Osteodysplastic variant of primordial dwarfism. Am J Med Genet 40:146-150.
31. Sigaudy S, Toutain A, Moncla A, Fredouille C, Bourliere B, Aymé S, Philip N. 1998. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature. Am J Med Genet 80:16-24.
32. Taybi H, Linder D. 1967. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology 89:275-281.
33. Thomas PS, Nevin NC. 1976. Congenital familial dwarfism with cephalo-skeletal dysplasia. Ann Radiol 19:187-192.
34. Thompson E, Pembrey M. 1985. Seckel syndrome: An overdiagnosed syndrome. J Med Genet 22:192-201.
35. Toriello HV, Horton WA, Oostendorp A, Waterman DF, Higgins JV. 1986. An apparently microcephalic primordial dwarfism and cataracts. Am J Med Genet 25:1-8.
36. Vichi GF, Currarino G, Wasserman RL, Duvina PL, Filippi L. 2000. Cephaloskeletal dysplasia (Taybi-Linder syndrome; osteodysplastic dwarfism type III): Report of two cases and review of the literature. Pediatr Radiol 30:644-652.
37. Wang GS, Cooper TA. 2007. Splicing in disease: Disruption of the splicing code and the decoding machinery. Nat Rev Genet 8:749-761.
38. Webber N, O'toole EA, Paige DG, Rosser E. 2008. Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II. Pediatr Dermatol 25:401-402.
39. Winter RM, Wigglesworth J, Harding BN. 1985. Osteodysplastic 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.
40. Xin B, Jones S, Puffenberger EG, Hinze C, Bright A, Tan H, Zhou A, Wu G, Vargus-Adams J, Agamanolis D, Wang H. 2011. Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke. Proc Natl Acad Sci USA 108:5372-5377.