Information de reference pour ce titreAccession Number: | 01445366-201012000-00027.
|
Author: | Sehested, Line T. 1; Mller, Rikke S. 2,3[phi]; Bache, Iben 3; Andersen, Noemi B. 2; Ullmann, Reinhard 4; Tommerup, Niels 3; Tumer, Zeynep 3,5
|
Institution: | (1)Department of Pediatrics, Roskilde Hospital, Roskilde, Denmark (2)Danish Epilepsy Centre, Dianalund, Denmark (3)Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Denmark (4)Max-Planck Institute for Molecular Genetics, Berlin, Germany (5)The Kennedy Center, Glostrup, Denmark Correspondence to: Department of Pediatrics, Roskilde Hospital, K[phi]gevej 7-13, 4000 Roskilde, Denmark. E-Mail: [email protected]
|
Title: | |
Source: | American Journal Of Medical Genetics -A. 152A(12):3115-3119, December 2010.
|
Abstract: | : We describe a chromosome rearrangement, ins(7;13)(q32q34;q32), which segregates in a three generation family, giving rise to three individuals with an unbalanced rearrangement. Two of the individuals, a sister and a brother, were investigated further in this study. They had minor facial dysmorphism and neuropsychiatric disorders including mental retardation, language delay and epilepsy. The sister had primary amenorrhea. Array CGH revealed a 12.2Mb deletion at 7q34-q36.2 including more than 60 genes where CNTNAP2 and NOBOX are of special interest. Comparison of the clinical and cytogenetic findings of our patients with previously reported patients, supports that haploinsuffiency of CNTNAP2 can result in language delay and/or autism spectrum disorder. Furthermore, we report on the second women with a deletion involving NOBOX who is affected by primary amenorrhea. (C) 2010 Wiley-Liss, Inc.
Copyright (C) 2010 John Wiley & Sons, Inc.
|
Author Keywords: | mental retardation; language delay; primary amenorrhea; 7q deletion; CNTNAP2; NOBOX.
|
References: | Alarcon M, Abrahams BS, Stone JL, Duvall JA, Perederity JV, Bomar JM, Sebat J, Wigler M, Martin CL, Ledbetter DH, Nelson SF, Cantor RM, Geschwind DH. (2008). Linkage, association, and gene-expression analyses identify CNTNAP2 as an autisme-susceptibility gene. Am J Hum Genet 82: 150-159.
Arking DE, Cutler DJ, Brune CW, Teslovich TM, West K, Ikeda M, Rea A, Guy M, Lin S, Cook EH Jr, Chakravarti A. (2008). A common genetic variant in the neurexin superfamily member CNTNAP2 increases familial risk of autism. Am J Hum Genet 82: 160-164.
Belloso JM, Bache I, Guitart M, Caballin MR, Halgren C, Kirchhoff M, Ropers HH, Tommerup N, Tumer Z. (2007). Disruption of the CNTNAP2 gene in a t(7;15) translocation family without symptoms of Gilles de la Tourette syndrome. Eur J Hum Genet 15: 711-713.
Bisgaard AM, Rackauskaite G, Thelle T, Kirchhoff M, Bryndorf T. (2006). Twins with mental retardation and an interstitial deletion 7q34q36.2 leading to the diagnosis of long QT syndrome. Am J Med Genet Part A 140A: 644-648.
Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F. (2008). Delineation of the phenotype associated with 7q36.1q36.2 deletion: Long QT syndrome, renal hypoplasia and mental retardation. Am J Med Genet Part A 146A: 1195-1199.
Johnson JN, Hofman N, Haglund CM, Cascino GD, Wilde AA, Ackerman MJ. (2009). Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy. Neurology 72: 224-231.
Nielsen KB, Egede F, Mouridsen I, Mohr J. (1979). Familial partial 7q monosomy resulting from segregation of an insertional chromosome rearrangement. J Med Genet 16: 461-466.
Poot M, Beyer V, Schwaab I, Damatova N, Slot R, Prothero J, Holder SE, Haff T. (2010). Disruption of CNTNAP2 and additional structural genome changes in a boy with speech delay and autisme spectrum disorder. Neurogenetics 11: 81-89.
Qin Y, Choi Y, Zhao H, Simpson JL, Chen Z, Rajkovic A. (2007). Nobox homeobox mutation causes premature ovarian failure. Am J Hum Genet 81: 576-581.
Rossi E, Verri AP, Patricelli MG, Destefani V, Ricca I, Vetro A, Ciccone R, Toniolo D, Maraschio P, Zuffardi O. (2008). A 12Mb deletion at 7q33-q35 associated with autism spectrum disorders and primary amenorrhea. Eur J Med Genet 51: 631-638.
Rudd MK, Keene J, Bunke B, Kaminsky EB, Adam MP, Mulle JG, Ledbetter DH, Martin CL. (2009). Segmental duplications mediate novel, clinically relevant chromosome rearrangements. Hum Mol Genet 18: 2957-2962.
Suzomori N, Yan C, Matzuk MM, Rajkovic A. (2002). NOBOX is a homeobox-encoding gene preferentrially expressed in primordial and growing oozytes. Mech Dev 111: 137-141.
Verkerk AJ, Mathews CA, Joosse M, Eussen BH, Heutink P, Oostra BA. (2003). CNTNAP2 is disrupted in a family with Gilles de la Tourette syndrome and obsessive compulsive disorder. Genomics 82: 1-9.
Vernes SC, Newbury DF, Abrahams BS, Winchester L, Nicod J, Groszer M, Alarcon M, Oliver PL, Davies KE, Geschwind DH, Anthony PM, Fisher SE. (2008). A functional genetic link between distinct developmental languages disorders. N Engl J Med 359: 2337-2345.
Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A. (2009). CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet 85: 655-666.
|
Language: | English.
|
Document Type: | Clinical Reports.
|
Journal Subset: | Life & Biomedical Sciences. Science.
|
ISSN: | 1552-4825
|
DOI Number: | https://dx.doi.org/10.1002/ajmg....- ouverture dans une nouvelle fenêtre
|
Annotation(s) | |
|
|