Balanced translocation t(3;18)(p13;q22.3) and points mutation in the ZNF407 gene detected in patients with both moderate non-syndromic intellectual disability and autism

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 3, 2013, Pages 431-438

  Ren, Cong Mian ^a   Liang, Yan ^b   Wei, Fengxiang ^c   Zhang, Ya Nan ^d   Zhong, Shou Qiang ^b   Gu, Heng ^a   Dong, Xing Sheng ^e   Huang, Yang Yu ^f   Ke, Hua ^b   Son, Xin Ming ^a   Tang, Damu ^g   Chen, Zheng ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b MAOMING PEOPLE S HOSPITAL   (China)

^c Institute of Women and Children's Health   (China)

^d THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^e Boai Hospital   (China)

^f Chaozhou Women and Children Hospital   (China)

^g MCMASTER UNIVERSITY   (Canada)

Author keywords

Fluorescence in situ hybridization; Non syndromic intellectual disability; Reciprocal translocation; ZNF407 gene

Indexed keywords

AMINO ACID SUBSTITUTION; ARTICLE; AUTISM; CHILD; CHROMOSOME 18; CHROMOSOME 3; CHROMOSOME BREAKAGE; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; HUMAN; INTELLECTUAL IMPAIRMENT; INTRON; KARYOTYPE 46,XY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; ZINC FINGER MOTIF; ZNF407 GENE;

AMINO ACID SEQUENCE; AUTISTIC DISORDER; BASE SEQUENCE; CHILD; CHROMOSOME BANDING; CHROMOSOME BREAKAGE; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 18; CHROMOSOMES, HUMAN, PAIR 3; COMPARATIVE GENOMIC HYBRIDIZATION; DNA-BINDING PROTEINS; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; POINT MUTATION; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; ZINC FINGERS;

EID: 84872247277     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2012.11.009     Document Type: Article

References (26)

1. Rooms L., Reyniers E., Kooy R.F. Subtelomeric rearrangements in the mentally retarded: a comparison of detection methods. Hum. Mutat. 2005, 25:513-524.
2. Ropers H.H. Genetics of early onset cognitive impairment. Annu. Rev. Genomics Hum. Genet. 2010, 11:161-187.
3. Leonard H., Wen X. The epidemiology of mental retardation: challenges and opportunities in the new millennium. Ment. Retard. Dev. Disabil. Res. Rev. 2002, 8:117-134.
4. Inlow J.K., Restifo L.L. Molecular and comparative genetics of mental retardation. Genetics 2004, 166:835-881.
5. Gilling M., Lind-Thomsen A., Mang Y., Bak M., Møller M., Ullmann R., Kristoffersson U., Kalscheuer V.M., Henriksen K.F., Bugge M., Tümer Z., Tommerup N. Biparental inheritance of chromosomal abnormalities in male twins with non-syndromic mental retardation. Eur. J. Med. Genet. 2011, 54:e383-e388.
6. Daoud H., Gruchy N., Constans J.M., Moussaoui E., Saumureau S., Bayou N., Amy M., Védrine S., Vu P.Y., Rötig A., Laumonnier F., Vourc'h P., Andres C.R., Leporrier N., Briault S. Haploinsufficiency of the GPD2 gene in a patient with nonsyndromic mental retardation. Hum. Genet. 2009, 124:649-658.
7. Liao H.M., Fang J.S., Chen Y.J., Wu K.L., Lee K.F., Chen C.H. Clinical and molecular characterization of a transmitted reciprocal translocation t(1;12)(p32.1;q21.3) in a family co-segregating with mental retardation, language delay, and microcephaly. BMC Med. Genet. 2011, 12:70.
8. Castermans D., Wilquet V., Steyaert J., Van de Ven W., Fryns J.P., Devriendt K. Chromosomal anomalies in individuals with autism: a strategy towards the identification of genes involved in autism. Autism 2004, 8:141-161.
9. Wuttke D.S., Foster M.P., Case D.A., Gottesfeld J.M., Wright P.E. Solution structure of the first three zinc fingers of TFIIIA bound to the cognate DNA sequence: determinants of affinity and sequence specificity. J. Mol. Biol. 1997, 273:183-206.
10. Rizkallah R., Alexander K.E., Hurt M.M. Global mitotic phosphorylation of C2H2 zinc finger protein linker peptides. Cell Cycle 2011, 10:3327-3336.
11. Billuart P., Bienvenu T., Ronce N., des Portes V., Vinet M.C., Zemni R., Roest Crollius H., Carrié A., Fauchereau F., Cherry M., Briault S., Hamel B., Fryns J.P., Beldjord C., Kahn A., Moraine C., Chelly J. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 1998, 392:923-926.
12. Johnston J.J., Olivos-Glander I., Turner J., Aleck K., Bird L.M., Mehta L., Schimke R.N., Heilstedt H., Spence J.E., Blancato J., Biesecker L.G. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am. J. Med. Genet. A 2003, 123A:236-242.
13. Johnston J.J., Olivos-Glander I., Killoran C., Elson E., Turner J.T., Peters K.F., Abbott M.H., Aughton D.J., Aylsworth A.S., Bamshad M.J., Booth C., Curry C.J., David A., Dinulos M.B., Flannery D.B., Fox M.A., Graham J.M., Grange D.K., Guttmacher A.E., Hannibal M.C., Henn W., Hennekam R.C., Holmes L.B., Hoyme H.E., Leppig K.A., Lin A.E., Macleod P., Manchester D.K., Marcelis C., Mazzanti L., McCann E., McDonald M.T., Mendelsohn N.J., Moeschler J.B., Moghaddam B., Neri G., Newbury-Ecob R., Pagon R.A., Phillips J.A., Sadler L.S., Stoler J.M., Tilstra D., Walsh Vockley C.M., Zackai E.H., Zadeh T.M., Brueton L., Black G.C., Biesecker L.G. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am. J. Hum. Genet. 2005, 76:609-622.
14. Vandeweyer G., Kooy R.F. Balanced translocations in mental retardation. Hum. Genet. 2009, 126:133-147.
15. Kalscheuer V.M., Feenstra I., van Ravenswaaij-Arts C.M., Smeets D.F., Menzel C., Ullmann R., Musante L., Ropers H.H. Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. Am. J. Med. Genet. A 2008, 146A:2053-2059.
16. Yamada K., Fukushi D., Ono T., Kondo Y., Kimura R., Nomura N., Kosaki K.J., Yamada Y., Mizuno S., Wakamatsu N. Characterization of a de novo balanced t(4;20)(q33;q12) translocation in a patient with mental retardation. Am. J. Med. Genet. A 2010, 152A:3057-3067.
17. Backx L., Vermeesch J., Pijkels E., de Ravel T., Seuntjens E., Van Esch H. PPP2R2C, a gene disrupted in autosomal dominant intellectual disability. Eur. J. Med. Genet. 2010, 53(2010):239-243.
18. Yamashita S., Mori A., Sakaguchi H., Suga T., Ishihara D., Ueda A., Yamashita T., Maeda Y., Uchino M., Hirano T. Sporadic juvenile amyotrophic lateral sclerosis caused by mutant FUS/TLS: possible association of mental retardation with this mutation. J. Neurol. 2012, 259:1039-1044.
19. Kleefstra T., Yntema H.G., Oudakker A.R., Banning M.J., Kalscheuer V.M., Chelly J., Moraine C., Ropers H.H., Fryns J.P., Janssen I.M., Sistermans E.A., Nillesen W.N., de Vries L.B., Hamel B.C., van Bokhoven H. Zinc finger 81(ZNF81) mutations associated with X-linked mental retardation. J. Med. Genet. 2004, 41:394-399.
20. Ladomery M., Dellaire G. Multifunctional zinc finger proteins in development and disease. Ann. Hum. Genet. 2002, 66(Pt 5-6):331-342.
21. Lugtenberg D., Yntema H.G., Banning M.J., Oudakker A.R., Firth H.V., Willatt L., Raynaud M., Kleefstra T., Fryns J.P., Ropers H.H., Chelly J., Moraine C., Gecz J., van Reeuwijk J., Nabuurs S.B., de Vries B.B., Hamel B.C., de Brouwer A.P., van Bokhoven H. ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am. J. Hum. Genet. 2006, 78:265-278.
22. Nicolas E., Poitelon Y., Chouery E., Salem N., Levy N., Mégarbané A., Delague V. CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592. Eur. J. Hum. Genet. 2010, 18:1107-1113.
23. Pak C., Garshasbi M., Kahrizi K., Gross C., Apponi L.H., Noto J.J., Kelly S.M., Leung S.W., Tzschach A., Behjati F., Abedini S.S., Mohseni M., Jensen L.R., Hu H., Huang B., Stahley S.N., Liu G., Williams K.R., Burdick S., Feng Y., Sanyal S., Bassell G.J., Ropers H.H., Najmabadi H., Corbett A.H., Moberg K.H., Kuss A.W. Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:12390-12395.
24. Feenstra I., Vissers L.E., Pennings R.J., Nillessen W., Pfundt R., Kunst H.P., Admiraal R.J., Veltman J.A., van Ravenswaaij-Arts C.M., Brunner H.G., Cremers C.W. Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans. Am. J. Hum. Genet. 2011, 89:813-819.
25. Cody J.D., Heard P.L., Crandall A.C., Carter E.M., Li J., Hardies L.J., Lancaster J., Perry B., Stratton R.F., Sebold C., Schaub R.L., Soileau B., Hill A., Hasi M., Fox P.T., Hale D.E. Narrowing critical regions and determining penetrance for selected 18q-phenotypes. Am. J. Med. Genet. A 2009, 149A:1421-1430.
26. Kabashi E., Brustein E., Champagne N., Drapeau P. Zebrafish models for the functional genomics of neurogenetic disorders. Biochim. Biophys. Acta 2011, 1812:335-345.