Nasal speech and hypothyroidism are common hallmarks of 12q15 microdeletions

European Journal of Human Genetics

Volumn 19, Issue 10, 2011, Pages 1032-1037

  Vergult, Sarah ^a   Krgovic, Danijela ^b   Loeys, Bart ^a,g   Lyonnet, Stanislas ^c   Liedén, Agne ^d   Anderlid, Britt Marie ^d   Sharkey, Freddie ^e   Joss, Shelagh ^f   Mortier, Geert ^g   Menten, Björn ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b UNIVERSITY MEDICAL CENTRE MARIBOR   (Slovenia)

^c INSERM   (France)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e WESTERN GENERAL HOSPITAL   (United Kingdom)

^f ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^g Departement for Medical Genetics   (Belgium)

Author keywords

12q15 microdeletion; developmental delay; hypothyroidism; nasal speech

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHROMOSOME 12Q; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; FEMALE; GENOTYPE; HUMAN; HYPOTHYROIDISM; LEARNING DISORDER; MALE; MEDICAL HISTORY; NASAL SPEECH; PHENOTYPE; PRIORITY JOURNAL; SPEECH;

EID: 85027952192     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.67     Document Type: Article

References (24)

1. Menten B, Buysse K, Zahir F, et al. Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14. J Med Genet 2007; 44: 264-268. (Pubitemid 46596439)
2. Schluth C, Gesny R, Borck G, et al. New case of interstitial deletion 12(q15-q21.2) in a girl with facial dysmorphism and mental retardation. Am J Med Genet A 2008; 146A: 93-96.
3. Meinecke P, Meinecke R: Multiple malformation syndrome including cleft lip and palate and cardiac abnormalities due to an interstitial deletion of chromosome 12q. J Med Genet 1987; 24: 187. (Pubitemid 17032762)
4. Watson MS, McAllister-Barton L, Mahoney MJ, Breg WR: Deletion (12)(q15q21.2). J Med Genet 1989; 26: 343-344. (Pubitemid 19117740)
5. Perez Sanchez C, Ayensa F, Lloveras E, et al. Prenatal diagnosis of an interstitial 12q chromosome deletion. Ann Genet 2004; 47: 177-179. (Pubitemid 38748500)
6. James PA, Oei P, Ng D, Kannu P, Aftimos S: Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region. Am J Med Genet A 2005; 136: 12-16. (Pubitemid 40934222)
7. Tocyap ML, Azar N, Chen T, Wiggs J: Clinical and molecular characterization of a patient with an interstitial deletion of chromosome 12q15-q23 and peripheral corneal abnormalities. Am J Ophthalmol 2006; 141: 566-567.
8. Yamanishi T, Nishio J, Miya S, et al. 12q interstitial deletion with bilateral cleft lip and palate: case report and literature review. Cleft Palate Craniofac J 2008; 45: 325-328. (Pubitemid 351778118)
9. Vissers LE, Bhatt SS, Janssen IM, et al. Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture. Hum Mol Genet 2009; 18: 3579-3593.
10. Collart MA: Global control of gene expression in yeast by the Ccr4-Not complex. Gene 2003; 313: 1-16. (Pubitemid 37338236)
11. Denis CL, Chen J: The CCR4-NOT complex plays diverse roles in mRNA metabolism. Prog Nucleic Acid Res Mol Biol 2003; 73: 221-250. (Pubitemid 137639544)
12. Abdelkhalek HB, Beckers A, Schuster-Gossler K, et al. The mouse homeobox gene Not is required for caudal notochord development and affected by the truncate mutation. Genes Dev 2004; 18: 1725-1736. (Pubitemid 38938188)
13. Behrens R, Nolting A, Reimann F, Schwarz M, Waldschutz R, Pongs O: hKCNMB3 and hKCNMB4, cloning and characterization of two members of the large-conductance calcium-activated potassium channel beta subunit family. FEBS Lett 2000; 474: 99-106. (Pubitemid 30320840)
14. Brenner R, Jegla TJ, Wickenden A, Liu Y, Aldrich RW: Cloning and functional characterization of novel large conductance calcium-activated potassium channel beta subunits, hKCNMB3 and hKCNMB4. J Biol Chem 2000; 275: 6453-6461. (Pubitemid 30129943)
15. Hunter T: Signaling-2000 and beyond. Cell 2000; 100: 113-127.
16. Zhang ZY: Protein tyrosine phosphatases: prospects for therapeutics. Curr Opin Chem Biol 2001; 5: 416-423.
17. Hendriks WJ, Dilaver G, Noordman YE, Kremer B, Fransen JA: PTPRR protein tyrosine phosphatase isoforms and locomotion of vesicles and mice. Cerebellum 2009; 8: 80-88.
18. Chirivi RG, Noordman YE, Van der Zee CE, Hendriks WJ: Altered MAP kinase phosphorylation and impaired motor coordination in PTPRR deficient mice. J Neurochem 2007; 101: 829-840. (Pubitemid 46633325)
19. Kuhn S, Koch M, Nubel T, et al. A complex of EpCAM, claudin-7, CD44 variant isoforms, and tetraspanins promotes colorectal cancer progression. Mol Cancer Res 2007; 5: 553-567. (Pubitemid 46985046)
20. Scholz CJ, Jacob CP, Buttenschon HN, et al. Functional variants of TSPAN8 are associated with bipolar disorder and schizophrenia. Am J Med Genet B Neuropsychiatr Genet 2010; 153B: 967-972.
21. Hsu SY, Liang SG, Hsueh AJ: Characterization of two LGR genes homologous to gonadotropin and thyrotropin receptors with extracellular leucine-rich repeats and a G protein-coupled, seven-transmembrane region. Mol Endocrinol 1998; 12: 1830-1845. (Pubitemid 28544179)
22. Hsu SY, Kudo M, Chen T, et al. The three subfamilies of leucine-rich repeat-containing G protein-coupled receptors (LGR): identification of LGR6 and LGR7 and the signaling mechanism for LGR7. Mol Endocrinol 2000; 14: 1257-1271. (Pubitemid 32260486)
23. Morita H, Mazerbourg S, Bouley DM, et al. Neonatal lethality of LGR5 null mice is associated with ankyloglossia and gastrointestinal distension. Mol Cell Biol 2004; 24: 9736-9743. (Pubitemid 39458802)
24. Curry CJ, Mao R, Aston E, et al. Homozygous deletions of a copy number change detected by array CGH: a new cause for mental retardation? Am J Med Genet A 2008; 146A: 1903-1910.