Recurrent transmission of a 17q12 microdeletion and a variable clinical spectrum

Molecular Syndromology

Volumn 2, Issue 2, 2011, Pages 72-75

  George, A M ^a   Love, D R ^a   Hayes, I ^a   Tsang, B ^b  

^a AUCKLAND CITY HOSPITAL   (New Zealand)

^b NORTH SHORE HOSPITAL   (New Zealand)

Author keywords

Deletion of 17q12; Developmental delay; Diabetes mellitus; Renal cysts

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 17Q; ECHOGRAPHY; GENE DELETION; GROWTH RETARDATION; HUMAN; INTELLECT; KIDNEY CYST; KIDNEY DISEASE; KIDNEY POLYCYSTIC DISEASE; LEARNING DISORDER; MALE; MENTAL DEFICIENCY; MICRODELETION; PENETRANCE; PRIORITY JOURNAL; SCHOOL CHILD; SOCIAL STRESS; WECHSLER INTELLIGENCE SCALE;

EID: 84856487008     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000335344     Document Type: Article

References (26)

1. Ballif BC, Hornor SA, Jenkins E, Madan-Khetar-pal S, Surti U, et al: Discovery of a previous-ly unrecognized microdeletion syndrome 16p11.2-p12.2. Nat Genet 39: 1071-1073 (2007). (Pubitemid 47340655)
2. Bernardini L, Gimelli S, Gervasini C, Carell M, Baban A, et al: Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports. Orphanet J Rare Dis 4: 25 (2009).
3. Bingham C, Hattersley AT: Renal cysts and dia-betes syndrome resulting from mutations in hepatocyte nuclear factor-1B. Nephrol Dial Transplant 19: 2703-2708 (2004). (Pubitemid 39480961)
4. Cheroki C, Krepichi-Santos AC, Szuhai K, Brenner V, Kim CA, et al: Genomic imbal-ances associated with mullerian aplasia. J Med Genet 45: 228-232 (2008). (Pubitemid 351518728)
5. Chomette D, Frain M, Cereghini S, Charnay P, Ghislain J: Krox20 hindbrain cis-regulatory landscape: interplay between multiple long-range initiation and autoregulatory ele-ments. Development 133: 1253-1262 (2006).
6. Edghill EL, Oram RA, Owens M, Stals KL, Har-ries LW, et al: Hepatocyte nuclear factor-1be-ta gene deletions -a common cause of renal disease. Nephrol Dial Transplant 23: 627-635 (2008). (Pubitemid 351767620)
7. Fombonne E: Epidemiological trends in rates of autism. Mol Psychiatry 7 Suppl 2:S4-6 (2002).
8. Girirajan S, Rosenfeld JA, Cooper GM, Antonac-ci F, Siswara P, et al: A recurrent 16p12.1 mi-crodeletion supports a two-hit model for se-vere developmental delay. Nat Genet 42: 203-210 (2010).
9. Heidet L, Decramer S, Pawtowski A, Morinière V, Bandin F, et al: Spectrum of HNF1B muta-tions in a large cohort of patients who harbor renal diseases. Clin J Am Soc Nephrol 5: 1079-1090 (2010).
10. Hoefele J, Wolf MT, O'Toole JF, Otto EA, Schul-theiss U, et al: Evidence of oligogenic inheri-tance in nephronophthisis. J Am Soc Nephrol 18: 2789-2795 (2007).
11. Kania A, Johnson RL, Jessell TM: Coordinate roles for LIM homeobox genes in directing the dorsoventral trajectory of motor axons in the vertebrate limb. Cell 102: 161-173 (2000).
12. Katsanis N: The oligogenic properties of Bardet-Biedl Syndrome. Hum Mol Genet 1:R65-71 (2004). (Pubitemid 38443800)
13. Klopocki E, Schulze H, Straub G, Ott CE, Hall J, et al: Complex inheritance pattern resem-bling autosomal recessive inheritance in-volving a microdeletion in thrombocytope-nia-absent radius syndrome. Am J Hum Genet 80: 232-240 (2007). (Pubitemid 46175672)
14. Kobayashi A, Kwan KM, Carroll TJ, McMahon AP, Mendelsohn CL, Behringer RR: Distinct and sequential tissue-specific activities of the LIM -class homeobox gene Lim1 for tubu-lar morphogenesis during kidney develop-ment. Development 132: 2809-2823 (2005). (Pubitemid 40932870)
15. Kumar RA, Christian SL: Genetics of autism spectrum disorders. Curr Neurol Neurosci Rep 9: 188-197(2009).
16. Loirat C, Bellane-Chantelot C, Husson I, De-schenes G, Guigonis V, Chabane N: Autism in three patients with cystic or hyperecho-genic kidneys and chromosome 17q12 dele-tion. Nephrol Dial Transplant 25: 3430-3433 (2010).
17. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ull-mann R, et al: Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes and epilepsy. Am J Hum Genet 81: 1057-1069 (2007). (Pubitemid 47580257)
18. Moreno-De-Luca D, SGENE consortium, Mulle JG, Simons Simplex Collection Genetics Consortium, Kaminsky EB, et al: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizo-phrenia. Am J Hum Genet 87: 618-630 (2010).
19. Nagamani SC, Erez A, Shen J, Li C, Roeder E, et al: Clinical spectrum associated with recur-rent genomic rearrangements in chromo-some 17q12. Eur J Hum Genet 18: 278-284 (2010).
20. Nord AS, Roeb W, Dickel DE, Walsh T, Kusenda M, et al: Reduced transcript expression of genes affected by inherited and de novo CNVs in autism. Eur J Hum Genet 19: 727-731 (2011).
21. Pouilhe M, Gilardi-Hebenstreit P, Desmarquet-Trin Dinh C, Charnay P: Direct regulation of vHnf1 by retinoic acid signaling and MAF-related factors in the neural tube. Dev Biol 309: 344-357 (2007). (Pubitemid 47371003)
22. Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, et al: A recurrent 15q13.3 microdeletion syn-drome associated with mental retardation and seizures. Nat Genet 40: 322-328 (2008). (Pubitemid 351311774)
23. Shawlot W, Behringer RR: Requirement for Lim1 in head-organizer function. Nature 374: 425-430 (1995).
24. Sykiotis GP, Plummer L, Hughes VA, Au M, Durrani S, et al: Oligogenic basis of isolated gonadotropin-releasing hormone deficiency. Proc Natl Acad Sci USA 107: 15140-15144 (2010).
25. Woodberry KA, Giuliano AJ, Seidman LJ: Pre-morbid IQ in schizophrenia: a meta-analytic review. Am J Psychiatry 165: 579-587 (2008).
26. Zhao Y, Kwan KM, Mailloux CM, Lee WK, Grin-berg A, et al: LIM-homeodomain proteins Lhx1 and Lhx5, and their cofactor Ldb1, con-trol Purkinje cell differentiation in the devel-oping cerebellum. Proc Natl Acad Sci USA 104: 13182-13186 (2007). (Pubitemid 351737613)