17q24.2 microdeletions: A new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations

European Journal of Human Genetics

Volumn 20, Issue 5, 2012, Pages 534-539

  Vergult, Sarah ^a   Dauber, Andrew ^b   Chiaie, Barbara Delle ^a   Van Oudenhove, Elke ^a   Simon, Marleen ^c   Rihani, Ali ^a   Loeys, Bart ^a,d   Hirschhorn, Joel ^b   Pfotenhauer, Jean ^e   Phillips III, John A ^e   Mohammed, Shehla ^f   Ogilvie, Caroline ^f   Crolla, John ^g   Mortier, Geert ^g   Menten, Björn ^a  

^a GHENT UNIVERSITY HOSPITAL   (Belgium)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c ERASMUS MEDICAL CENTER   (Netherlands)

^d Department for Medical Genetics ^*  (Belgium)

^e VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f GUY S HOSPITAL   (United Kingdom)

^g SALISBURY DISTRICT HOSPITAL   (United Kingdom)

Author keywords

17q24.2 deletion; array CGH; hallucinations; mood swings; PRKCA

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; MICRORNA; POTASSIUM CHANNEL KCNE1; PROTEIN KINASE C ALPHA;

ADULT; ARTICLE; CARNEY COMPLEX; CASE REPORT; CHROMOSOME 17Q; CHROMOSOME DELETION; CYTOGENETICS; FEMALE; GENE CLUSTER; HALLUCINATION; HEARING LOSS; HUMAN; INTELLECTUAL IMPAIRMENT; MENTAL INSTABILITY; OBESITY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE;

CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HALLUCINATIONS; HUMANS; INTELLECTUAL DISABILITY; IRRITABLE MOOD; MICRORNAS; OBESITY, ABDOMINAL; PROTEIN KINASE C-ALPHA; SEIZURES; SYNDROME; YOUNG ADULT;

EID: 84859897307     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2011.239     Document Type: Article

References (46)

1. Zody MC, Garber M, Adams DJ et al: DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature 2006; 440: 1045-1049.
2. Koolen DA, Vissers LE, Pfundt R et al: A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet 2006; 38: 999-1001. (Pubitemid 44325923)
3. Lupski JR, de Oca-Luna RM, Slaugenhaupt S et al: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991; 66: 219-232. (Pubitemid 121001361)
4. Chance PF, Alderson MK, Leppig KA et al: DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993; 72: 143-151. (Pubitemid 23029701)
5. Smith AC, McGavran L, Robinson J et al: Interstitial deletion of (17)(p11.2p11.2) in nine patients. Am J Med Genet 1986; 24: 393-414. (Pubitemid 16017634)
6. Bi W, Sapir T, Shchelochkov OA et al: Increased LIS1 expression affects human and mouse brain development. Nat Genet 2009; 41: 168-177.
7. Riva P, Corrado L, Natacci F et al: NF1 microdeletion syndrome: refined FISH characterization of sporadic and familial deletions with locus-specific probes. Am J Hum Genet 2000; 66: 100-109. (Pubitemid 30481472)
8. Bridge J, Sanger W, Mosher G et al: Partial duplication of distal 17q. Am J Med Genet 1985; 22: 229-235. (Pubitemid 16255847)
9. Dallapiccola B, Mingarelli R, Digilio C, Obregon MG, Giannotti A: Interstitial deletion del(17) (q21.3q23 or 24.2) syndrome. Clin Genet 1993; 43: 54-55. (Pubitemid 23083888)
10. Thomas JA, Manchester DK, Prescott KE, Milner R, McGavran L, Cohen Jr MM: Hunter-McAlpine craniosynostosis phenotype associated with skeletal anomalies and interstitial deletion of chromosome 17q. Am J Med Genet 1996; 62: 372-375.
11. Olney PN, Kean LS, Graham D, Elsas LJ, May KM: Campomelic syndrome and deletion of SOX9. Am J Med Genet 1999; 84: 20-24. (Pubitemid 29169229)
12. Levin ML, Shaffer LG, Lewis R, Gresik MV, Lupski JR: Unique de novo interstitial deletion of chromosome 17, del(17) (q23.2q24.3) in a female newborn with multiple congenital anomalies. Am J Med Genet 1995; 55: 30-32.
13. Blyth M, Huang S, Maloney V, Crolla JA, Karen Temple I: A 2.3Mb deletion of 17q24.2-q24.3 associated with 'Carney Complex plus'. Eur J Med Genet 2008; 51: 672-678.
14. Sun M, Li N, Dong W et al: Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia. Am J Hum Genet 2009; 84: 807-813.
15. Schulze-Bahr E, Haverkamp W, Funke H: The long-QT syndrome. N Engl J Med 1995; 333: 1783-1784.
16. Buysse K, Delle Chiaie B, Van Coster R et al: Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience. Eur J Med Genet 2009; 52: 398-403.
17. Redon R, Ishikawa S, Fitch KR et al: Global variation in copy number in the human genome. Nature 2006; 444: 444-454. (Pubitemid 44809057)
18. van Steensel MA, Vreeburg M, Steijlen PM, de Die-Smulders C: Myhre syndrome in a female with previously undescribed symptoms: further delineation of the phenotype. Am J Med Genet A 2005; 139A: 127-130. (Pubitemid 46211248)
19. Becerra-Solano LE, Diaz-Rodriguez M, Nastasi-Catanese JA et al: The fifth female patient with Myhre syndrome: further delineation. Clin Dysmorphol 2008; 17: 113-117. (Pubitemid 351498740)
20. Burglen L, Heron D, Moerman A et al: Myhre syndrome: new reports, review, and differential diagnosis. J Med Genet 2003; 40: 546-551. (Pubitemid 36843081)
21. Davalos NO, Garcia-Ortiz JE, Garcia-Cruz D, Feria-Velasco A, Sanchez-Corona J: Myhre syndrome: first female case. Clin Dysmorphol 2003; 12: 119-121. (Pubitemid 36549618)
22. Garcia-Cruz D, Figuera LE, Feria-Velazco A et al: The Myhre syndrome: report of two cases. Clin Genet 1993; 44: 203-207. (Pubitemid 23313871)
23. Lopez-Cardona MG, Garcia-Cruz D, Garcia-Ortiz JE et al: Second female case of Myhre syndrome. Clin Dysmorphol 2004; 13: 91-94. (Pubitemid 40278133)
24. Titomanlio L, Marzano MG, Rossi E et al: Case of Myhre syndrome with autism and peculiar skin histological findings. Am J Med Genet 2001; 103: 163-165.
25. Whiteford ML, Doig WB, Raine PA, Hollman AS, Tolmie JL: A new case of Myhre syndrome. Clin Dysmorphol 2001; 10: 135-140. (Pubitemid 32242878)
26. Myhre SA, Ruvalcaba RH, Graham CB: A new growth deficiency syndrome. Clin Genet 1981; 20: 1-5. (Pubitemid 11013000)
27. Soljak MA, Aftimos S, Gluckman PD: A new syndrome of short stature, joint limitation and muscle hypertrophy. Clin Genet 1983; 23: 441-446. (Pubitemid 13076126)
28. Rulli I, Ferrero GB, Belligni E, Delmonaco AG, Defilippi C, Silengo M: Myhre's syndrome in a girl with normal intelligence. Am J Med Genet A 2005; 134A: 100-102. (Pubitemid 40418578)
29. Murphy A, Tantisira KG, Soto-Quiros ME et al: PRKCA: a positional candidate gene for body mass index and asthma. Am J Hum Genet 2009; 85: 87-96.
30. Kirschner LS, Carney JA, Pack SD et al: Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet 2000; 26: 89-92.
31. Horvath A, Bossis I, Giatzakis C et al: Large deletions of the PRKAR1A gene in Carney complex. Clin Cancer Res 2008; 14: 388-395. (Pubitemid 351226105)
32. Horvath A, Bertherat J, Groussin L et al: Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Hum Mutat 2010; 31: 369-379.
33. Rothenbuhler A, Stratakis CA: Clinical and molecular genetics of Carney complex. Best Pract Res Cl En 2010; 24: 389-399.
34. Narayanan K, Ramachandran A, Hao J et al: Dual functional roles of dentin matrix protein 1. Implications in biomineralization and gene transcription by activation of intracellular Ca2+ store. J Biol Chem 2003; 278: 17500-17508. (Pubitemid 36799637)
35. Ye L, MacDougall M, Zhang S et al: Deletion of dentin matrix protein-1 leads to a partial failure of maturation of predentin into dentin, hypomineralization, and expanded cavities of pulp and root canal during postnatal tooth development. J Biol Chem2004; 279: 19141-19148. (Pubitemid 38623345)
36. Tseng SF, Chang CY, Wu KJ, Teng SC: Importin KPNA2 is required for proper nuclear localization and multiple functions of NBS1. J Biol Chem2005; 280: 39594-39600.
37. Plaster NM, Tawil R, Tristani-Firouzi M et al: Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001; 105: 511-519.
38. de Quervain DJ, Papassotiropoulos A: Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. Proc Natl Acad Sci USA 2006; 103: 4270-4274.
39. Jablensky A, Morar B, Wiltshire S et al: Polymorphisms associated with normal memory variation also affect memory impairment in schizophrenia. Genes Brain Behav 2011; 10: 410-417.
40. Carroll LS, Williams NM, Moskvina V et al: Evidence for rare and common genetic risk variants for schizophrenia at protein kinase C, alpha. Mol Psychiatry 2010; 15: 1101-1111.
41. Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT: CACNA1H mutations in autism spectrum disorders. J Biol Chem 2006; 281: 22085-22091. (Pubitemid 44181912)
42. Ferreira MA, O'Donovan MC, Meng YA et al: Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet 2008; 40: 1056-1058.
43. Curtis D, Vine AE, McQuillin A et al: Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Psychiatr Genet 2011; 21: 1-4.
44. Liang J, Zhang Y, Chen Y et al: Common polymorphisms in the CACNA1H gene associated with childhood absence epilepsy in Chinese Han population. Ann Hum Genet 2007; 71: 325-335. (Pubitemid 46585675)
45. Stam AH, Luijckx GJ, Poll-The BT et al: Early seizures and cerebral oedema after trivial head trauma associated with the CACNA1A S218L mutation. J Neurol Neurosurg Psychiatry 2009; 80: 1125-1129.
46. Newton AC: Protein kinase C: structure, function, and regulation. J Biol Chem 1995; 270: 28495-28498.