17q12 microdeletion syndrome: Three patients illustrating the phenotypic spectrum

American Journal of Medical Genetics, Part A

Volumn 158 A, Issue 9, 2012, Pages 2317-2321

  Dixit, Abhijit ^a   Patel, Chirag ^b   Harrison, Rachel ^a   Jarvis, Joanna ^b   Hulton, Sally ^c   Smith, Nigel ^a   Yates, Katherine ^a   Silcock, Lee ^b   McMullan, Dominic J ^b   Suri, Mohnish ^a  

^a NOTTINGHAM CITY HOSPITAL   (United Kingdom)

^b BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^c BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Atypical Alagille syndrome; Blepharophimosis; Blocked nasolacrimal duct; Cystic kidney disease; Hypospadias; Laryngomalacia; Maturity onset diabetes of the young type 5 (MODY 5); Paucity of intrahepatic bile ducts; Renal cysts and diabetes syndrome (RCAD); Transient hypercalcemia

Indexed keywords

17Q12 MICRODELETION SYNDROME; ALAGILLE SYNDROME; ARTICLE; AUTISM; CASE REPORT; CHILD; CHROMOSOME DELETION; COGNITIVE DEFECT; COMPARATIVE GENOMIC HYBRIDIZATION; FACE DYSMORPHIA; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYPERCALCEMIA; INFANT; KIDNEY POLYCYSTIC DISEASE; LEARNING DISORDER; MALE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SPEECH DISORDER; ULTRASOUND;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 17; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; MALE; PHENOTYPE; SYNDROME;

EID: 84865562599     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35520     Document Type: Article

References (16)

1. Beckers D, Bellanne-Chantelot C, Maes M. 2007. Neonatal cholestatic jaundice as the first symptom of a mutation in the hepatocyte nuclear factor-1beta gene (HNF-1beta). J Pediatr 150:313-314.
2. Bellanne-Chantelot C, Clauin S, Chauveau D, Collin P, Daumont M, Douillard C, Dubois-Laforgue D, Dusselier L, Gautier JF, Jadoul M, et al. 2005. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 54:3126-3132.
3. Bernardini L, Gimelli S, Gervasini C, Carella M, Baban A, Frontino G, Barbano G, Divizia MT, Fedele L, Novelli A, et al. 2009. Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: Two case reports. Orphanet J Rare Dis 4:25.
4. Chen YZ, Gao Q, Zhao XZ, Bennett CL, Xiong XS, Mei CL, Shi YQ, Chen XM. 2010. Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. Chin Med J (Engl) 123:3326-3333.
5. Coffinier C, Gresh L, Fiette L, Tronche F, Schutz G, Babinet C, Pontoglio M, Yaniv M, Barra J. 2002. Bile system morphogenesis defects and liver dysfunction upon targeted deletion of HNF1beta. Development 129:1829-1838.
6. Decramer S, Parant O, Beaufils S, Clauin S, Guillou C, Kessler S, Aziza J, Bandin F, Schanstra JP, Bellanne-Chantelot C. 2007. Anomalies of the TCF2 gene are the main cause of fetal bilateral hyperechogenic kidneys. J Am Soc Nephrol 18:923-933.
7. Devriendt K, Dooms L, Proesmans W, de Zegher F, Desmet V, Eggermont E. 1996. Paucity of intrahepatic bile ducts, solitary kidney and atrophic pancreas with diabetes mellitus: Atypical Alagille syndrome? Eur J Pediatr 155:87-90.
8. Elia J, Gai X, Xie HM, Perin JC, Geiger E, Glessner JT, D'Arcy M, deBerardinis R, Frackelton E, Kim C, et al. 2010. Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes. Mol Psychiatry 15:637-646.
9. Kitanaka S, Miki Y, Hayashi Y, Igarashi T. 2004. Promoter-specific repression of hepatocyte nuclear factor (HNF)-1 beta and HNF-1 alpha transcriptional activity by an HNF-1 beta missense mutant associated with Type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations. J Clin Endocrinol Metab 89:1369-1378.
10. Loirat C, Bellanne-Chantelot C, Husson I, Deschenes G, Guigonis V, Chabane N. 2010. Autism in three patients with cystic or hyperechogenic kidneys and chromosome 17q12 deletion. Nephrol Dial Transplant 25:3430-3433.
11. Mefford HC, Clauin S, Sharp AJ, Moller RS, Ullmann R, Kapur R, Pinkel D, Cooper GM, Ventura M, Ropers HH, et al. 2007. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am J Hum Genet 81:1057-1069.
12. Moreno-De-Luca D, Mulle JG, Kaminsky EB, Sanders SJ, Myers SM, Adam MP, Pakula AT, Eisenhauer NJ, Uhas K, Weik L, et al. 2010. Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia. Am J Hum Genet 87:618-630.
13. Nagamani SC, Erez A, Shen J, Li C, Roeder E, Cox S, Karaviti L, Pearson M, Kang SH, Sahoo T, et al. 2010. Clinical spectrum associated with recurrent genomic rearrangements in chromosome 17q12. Eur J Hum Genet 18:278-284.
14. Nik-Zainal S, Strick R, Storer M, Huang N, Rad R, Willatt L, Fitzgerald T, Martin V, Sandford R, Carter NP, et al. 2011. High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia. J Med Genet 48:197-204.
15. Raile K, Klopocki E, Holder M, Wessel T, Galler A, Deiss D, Muller D, Riebel T, Horn D, Maringa M, et al. 2009. Expanded clinical spectrum in hepatocyte nuclear factor 1b-maturity-onset diabetes of the young. J Clin Endocrinol Metab 94:2658-2664.
16. Ulinski T, Lescure S, Beaufils S, Guigonis V, Decramer S, Morin D, Clauin S, Deschenes G, Bouissou F, Bensman A, et al. 2006. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 17:497-503.