Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

European Journal of Medical Genetics

Volumn 51, Issue 2, 2008, Pages 172-177

  Andrieux, Joris ^a   Lepretre, Frédéric ^b   Cuisset, Jean Marie ^a   Goldenberg, Alice ^c   Delobel, Bruno ^d   Manouvrier Hanu, Sylvie ^a   Holder Espinasse, Muriel ^a  

^a LILLE UNIVERSITY HOSPITAL   (France)

^b INSERM   (France)

^c ROUEN UNIVERSITY HOSPITAL   (France)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

Author keywords

18q21 Deletion; Pitt Hopkins syndrome; TCF4; Thick helix

Indexed keywords

ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; CASE REPORT; CEREBELLUM VERMIS; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CORPUS CALLOSUM; CYTOGENETICS; DEVELOPMENTAL DISORDER; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENETIC DISORDER; GROWTH RETARDATION; HUMAN; LIMB MALFORMATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PITT HOPKINS SYNDROME; SCHOOL CHILD; TCF 4 TRANSCRIPTION FACTOR GENE;

EID: 40649118943     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2007.12.002     Document Type: Article

References (10)

1. J. Amiel M. Rio L. de Pontual R. Redon V. Malan N. Boddaert P. Plouin N.P. Carter S. Lyonnet A. Munnich L. Colleaux Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt–Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction Am. J. Hum. Genet. 80 2006 988 993
2. A. Brockschmidt U. Todt S. Ryu A. Hoischen C. Landwehr S. Birnbaum W. Frenck B. Radlwimmer P. Lichter H. Engels W. Driever C. Kubisch R.G. Weber Severe mental retardation with breathing abnormalities (Pitt–Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4 Hum. Mol. Genet. 16 2007 1488 1494
3. J.J. Engelen U. Moog J. Weber A.A. Haagen C.M. van Uum A.J. Hamers Deletion of chromosome region 18q21.1 → 18q21.3 in a patient without clinical features of the 18q-phenotype Am. J. Med. Genet. A. 119 2003 356 359
4. P. Gustavsson E. Kimber J. Wahlstrom G. Anneren Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3) Am. J. Med. Genet. 82 1999 348 351
5. A.D. Kline M.E. White R. Wapner K. Rojas L.G. Biesecker J. Kamholz E.H. Zackai M. Muenke C.I. Scott J. Overhauser Molecular analysis of the 18q-syndrome and correlation with phenotype Am. J. Hum. Genet. 52 1993 895 906
6. M.M. Peippo K.O. Simola L.K. Valanne A.T. Larsen M. Kahkonen M.P. Auranen J. Ignatius Pitt–Hopkins syndrome in two patients and further definition of the phenotype Clin. Dysmorphol. 15 2006 47 54
7. D. Pitt I. Hopkins A syndrome of mental retardation, wide mouth and intermittent overbreathing Aust. Paediatr. J. 14 1978 182 184
8. R. Zannolli M. Pierluigi L. Pucci N. Lagrasta O. Gasparre M.R. Matera R.M. Di Bartolo M.A. Mazzei P. Sacco C. Miraco M.M. de Santi P. Aitiani S. Cavani L. Pellegrini M. Fimiani C. Alessandrini P. Galuzzi W. Livi S. Gonnelli P. Terrosi-Vagnoli M. Zappella 18q-syndrome and ectodermal dysplasia syndrome: description of a child and his family Am. J. Med. Genet. A. 116 2003 192 199
9. C. Zweier M.M. Peippo J. Hoyer S. Sousa A. Bottani J. Clayton-Smith W. Reardon J. Saraiva A. Cabral I. Göhring K. Devriendt T. de Ravel E. Biljsma R.C.M. Hennekam A. Orrico M. Cohen A. Dreweke A. Reis P. Nürnberg A. Rauch Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt–Hopkins syndrome) Am. J. Hum. Genet. 80 2007 994 1001
10. G.A. Silverman S.S. Schneider H.F. Massa A. Flint M. Lalande J.C. Leonard J. Overhauser G. van den Engh B.J. Trask The 18q-syndrome: analysis of chromosomes by bivariate flow karyotyping and the PCR reveals a successive set of deletion breakpoints within 18q21.2–q22.2 Am. J. Hum. Genet. 56 1995 926 937