Literature DB >> 22511894

Recurrent Transmission of a 17q12 Microdeletion and a Variable Clinical Spectrum.

A M George1, D R Love, I Hayes, B Tsang.   

Abstract

The relatively rare proximal microdeletion of 17q12 (including deletion of the HNF1B gene) is associated with the renal cysts and diabetes syndrome. Recent reports have suggested that there may also be an association between this microdeletion and learning difficulties/autism. This case report describes one of only a few reported families segregating the 17q12 microdeletion, but which highlights the nonpenetrance and variable expressivity of multiple features of this condition.

Entities:  

Year:  2011        PMID： 22511894      PMCID： PMC3326281          DOI： 10.1159/000335344

Source DB:  PubMed          Journal:  Mol Syndromol        ISSN： 1661-8769


  26 in total

1.  Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

Authors:  Blake C Ballif; Sara A Hornor; Elizabeth Jenkins; Suneeta Madan-Khetarpal; Urvashi Surti; Kelly E Jackson; Alexander Asamoah; Pamela L Brock; Gordon C Gowans; Robert L Conway; John M Graham; Livija Medne; Elaine H Zackai; Tamim H Shaikh; Joel Geoghegan; Rebecca R Selzer; Peggy S Eis; Bassem A Bejjani; Lisa G Shaffer
Journal:  Nat Genet       Date:  2007-08-19       Impact factor: 38.330

2.  Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Authors:  Daniel Moreno-De-Luca; Jennifer G Mulle; Erin B Kaminsky; Stephan J Sanders; Scott M Myers; Margaret P Adam; Amy T Pakula; Nancy J Eisenhauer; Kim Uhas; LuAnn Weik; Lisa Guy; Melanie E Care; Chantal F Morel; Charlotte Boni; Bonnie Anne Salbert; Ashadeep Chandrareddy; Laurie A Demmer; Eva W C Chow; Urvashi Surti; Swaroop Aradhya; Diane L Pickering; Denae M Golden; Warren G Sanger; Emily Aston; Arthur R Brothman; Troy J Gliem; Erik C Thorland; Todd Ackley; Ram Iyer; Shuwen Huang; John C Barber; John A Crolla; Stephen T Warren; Christa L Martin; David H Ledbetter
Journal:  Am J Hum Genet       Date:  2010-11-04       Impact factor: 11.025

3.  Distinct and sequential tissue-specific activities of the LIM-class homeobox gene Lim1 for tubular morphogenesis during kidney development.

Authors:  Akio Kobayashi; Kin-Ming Kwan; Thomas J Carroll; Andrew P McMahon; Cathy L Mendelsohn; Richard R Behringer
Journal:  Development       Date:  2005-06       Impact factor: 6.868

4.  Spectrum of HNF1B mutations in a large cohort of patients who harbor renal diseases.

Authors:  Laurence Heidet; Stéphane Decramer; Audrey Pawtowski; Vincent Morinière; Flavio Bandin; Bertrand Knebelmann; Anne-Sophie Lebre; Stanislas Faguer; Vincent Guigonis; Corinne Antignac; Rémi Salomon
Journal:  Clin J Am Soc Nephrol       Date:  2010-04-08       Impact factor: 8.237

5.  Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

Authors:  Heather C Mefford; Severine Clauin; Andrew J Sharp; Rikke S Moller; Reinhard Ullmann; Raj Kapur; Dan Pinkel; Gregory M Cooper; Mario Ventura; H Hilger Ropers; Niels Tommerup; Evan E Eichler; Christine Bellanne-Chantelot
Journal:  Am J Hum Genet       Date:  2007-09-26       Impact factor: 11.025

6.  Direct regulation of vHnf1 by retinoic acid signaling and MAF-related factors in the neural tube.

Authors:  Marie Pouilhe; Pascale Gilardi-Hebenstreit; Carole Desmarquet-Trin Dinh; Patrick Charnay
Journal:  Dev Biol       Date:  2007-07-10       Impact factor: 3.582

7.  Premorbid IQ in schizophrenia: a meta-analytic review.

Authors:  Kristen A Woodberry; Anthony J Giuliano; Larry J Seidman
Journal:  Am J Psychiatry       Date:  2008-04-15       Impact factor: 18.112

Review 8.  Genetics of autism spectrum disorders.

Authors:  Ravinesh A Kumar; Susan L Christian
Journal:  Curr Neurol Neurosci Rep       Date:  2009-05       Impact factor: 5.081

9.  Recurrent microdeletion at 17q12 as a cause of Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: two case reports.

Authors:  Laura Bernardini; Stefania Gimelli; Cristina Gervasini; Massimo Carella; Anwar Baban; Giada Frontino; Giancarlo Barbano; Maria Teresa Divizia; Luigi Fedele; Antonio Novelli; Frédérique Béna; Faustina Lalatta; Monica Miozzo; Bruno Dallapiccola
Journal:  Orphanet J Rare Dis       Date:  2009-11-04       Impact factor: 4.123

10.  A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.

Authors:  Andrew J Sharp; Heather C Mefford; Kelly Li; Carl Baker; Cindy Skinner; Roger E Stevenson; Richard J Schroer; Francesca Novara; Manuela De Gregori; Roberto Ciccone; Adam Broomer; Iris Casuga; Yu Wang; Chunlin Xiao; Catalin Barbacioru; Giorgio Gimelli; Bernardo Dalla Bernardina; Claudia Torniero; Roberto Giorda; Regina Regan; Victoria Murday; Sahar Mansour; Marco Fichera; Lucia Castiglia; Pinella Failla; Mario Ventura; Zhaoshi Jiang; Gregory M Cooper; Samantha J L Knight; Corrado Romano; Orsetta Zuffardi; Caifu Chen; Charles E Schwartz; Evan E Eichler
Journal:  Nat Genet       Date:  2008-02-17       Impact factor: 38.330
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  9 in total

1.  Accurate diagnosis and heterogeneity analysis of a 17q12 deletion syndrome family with adulthood diabetes onset and complex clinical phenotypes.

Authors:  Hui-Xuan Wu; Long Li; Hong Zhang; Jun Tang; Mei-Biao Zhang; Hao-Neng Tang; Yue Guo; Zhi-Guang Zhou; Hou-De Zhou
Journal:  Endocrine       Date:  2021-03-20       Impact factor: 3.633

2.  Fetal phenotypes emerge as genetic technologies become robust.

Authors:  Kathryn J Gray; Louise E Wilkins-Haug; Nancy J Herrig; Neeta L Vora
Journal:  Prenat Diagn       Date:  2019-08-05       Impact factor: 3.050

3.  A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

Authors:  Jillian P Casey; Patricia Goggin; Jennifer McDaid; Martin White; Sean Ennis; David R Betts; Jane S Lucas; Basil Elnazir; Sally Ann Lynch
Journal:  BMC Med Genet       Date:  2015-06-30       Impact factor: 2.103

4.  A rare combination of MODY5 and duodenal atresia in a patient: a case report.

Authors:  Tao Du; Nan Zeng; Xiaofang Wen; Peizhuang Zhu; Wangen Li
Journal:  BMC Med Genet       Date:  2020-02-06       Impact factor: 2.103

5.  17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.

Authors:  Roberta Milone; Raffaella Tancredi; Angela Cosenza; Anna Rita Ferrari; Roberta Scalise; Giovanni Cioni; Roberta Battini
Journal:  Genes (Basel)       Date:  2021-10-21       Impact factor: 4.096

6.  Unusual manifestations of young woman with MODY5 based on 17q12 recurrent deletion syndrome.

Authors:  Ying Cheng; Da-Peng Zhong; Li Ren; Hang Yang; Chen-Fu Tian
Journal:  BMC Endocr Disord       Date:  2022-03-26       Impact factor: 2.763

7.  Phenotypic Variability of 17q12 Microdeletion Syndrome - Three Cases and Review of Literature.

Authors:  A Țuțulan-Cuniță; A G Pavel; L Dimos; M Nedelea; A Ursuleanu; A T Neacșu; M Budișteanu; D Stambouli
Journal:  Balkan J Med Genet       Date:  2022-06-05       Impact factor: 0.810

8.  Clinical report of a 17q12 microdeletion with additionally unreported clinical features.

Authors:  Jennifer L Roberts; Stephanie K Gandomi; Melissa Parra; Ira Lu; Chia-Ling Gau; Majed Dasouki; Merlin G Butler
Journal:  Case Rep Genet       Date:  2014-06-02

9.  Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder.

Authors:  Rhian L Clissold; Charles Shaw-Smith; Peter Turnpenny; Benjamin Bunce; Detlef Bockenhauer; Larissa Kerecuk; Simon Waller; Pamela Bowman; Tamsin Ford; Sian Ellard; Andrew T Hattersley; Coralie Bingham
Journal:  Kidney Int       Date:  2016-05-24       Impact factor: 10.612
  9 in total

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