Literature DB >> 16906164

A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.

David A Koolen1, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J L Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V Knoers, Ad Geurts van Kessel, Erik A Sistermans, Joris A Veltman, Han G Brunner, Bert B A de Vries.   

Abstract

Submicroscopic genomic copy number changes have been identified only recently as an important cause of mental retardation. We describe the detection of three interstitial, overlapping 17q21.31 microdeletions in a cohort of 1,200 mentally retarded individuals associated with a clearly recognizable clinical phenotype of mental retardation, hypotonia and a characteristic face. The deletions encompass the MAPT and CRHR1 genes and are associated with a common inversion polymorphism.

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Year:  2006        PMID： 16906164     DOI： 10.1038/ng1853

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  162 in total

1.  17q24.2 microdeletions: a new syndromal entity with intellectual disability, truncal obesity, mood swings and hallucinations.

Authors:  Sarah Vergult; Andrew Dauber; Barbara Delle Chiaie; Elke Van Oudenhove; Marleen Simon; Ali Rihani; Bart Loeys; Joel Hirschhorn; Jean Pfotenhauer; John A Phillips; Shehla Mohammed; Caroline Ogilvie; John Crolla; Geert Mortier; Björn Menten
Journal:  Eur J Hum Genet       Date:  2011-12-14       Impact factor: 4.246

2.  Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing.

Authors:  Andy Itsara; Lisenka E L M Vissers; Karyn Meltz Steinberg; Kevin J Meyer; Michael C Zody; David A Koolen; Joep de Ligt; Edwin Cuppen; Carl Baker; Choli Lee; Tina A Graves; Richard K Wilson; Robert B Jenkins; Joris A Veltman; Evan E Eichler
Journal:  Am J Hum Genet       Date:  2012-04-06       Impact factor: 11.025

Review 3.  Microdeletion and microduplication syndromes.

Authors:  Anja Weise; Kristin Mrasek; Elisabeth Klein; Milene Mulatinho; Juan C Llerena; David Hardekopf; Sona Pekova; Samarth Bhatt; Nadezda Kosyakova; Thomas Liehr
Journal:  J Histochem Cytochem       Date:  2012-03-06       Impact factor: 2.479

4.  Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.

Authors:  Paweł Stankiewicz; Shashikant Kulkarni; Avinash V Dharmadhikari; Srirangan Sampath; Samarth S Bhatt; Tamim H Shaikh; Zhilian Xia; Amber N Pursley; M Lance Cooper; Marwan Shinawi; Alex R Paciorkowski; Dorothy K Grange; Michael J Noetzel; Scott Saunders; Paul Simons; Marshall Summar; Brendan Lee; Fernando Scaglia; Florence Fellmann; Danielle Martinet; Jacques S Beckmann; Alexander Asamoah; Kathryn Platky; Susan Sparks; Ann S Martin; Suneeta Madan-Khetarpal; Jacqueline Hoover; Livija Medne; Carsten G Bonnemann; John B Moeschler; Stephanie E Vallee; Sumit Parikh; Polly Irwin; Victoria P Dalzell; Wendy E Smith; Valerie C Banks; David B Flannery; Carolyn M Lovell; Gary A Bellus; Kathryn Golden-Grant; Jerome L Gorski; Jennifer L Kussmann; Tracy L McGregor; Rizwan Hamid; Jean Pfotenhauer; Blake C Ballif; Chad A Shaw; Sung-Hae L Kang; Carlos A Bacino; Ankita Patel; Jill A Rosenfeld; Sau Wai Cheung; Lisa G Shaffer
Journal:  Hum Mutat       Date:  2011-11-02       Impact factor: 4.878

5.  Observation and prediction of recurrent human translocations mediated by NAHR between nonhomologous chromosomes.

Authors:  Zhishuo Ou; Paweł Stankiewicz; Zhilian Xia; Amy M Breman; Brian Dawson; Joanna Wiszniewska; Przemyslaw Szafranski; M Lance Cooper; Mitchell Rao; Lina Shao; Sarah T South; Karlene Coleman; Paul M Fernhoff; Marcel J Deray; Sally Rosengren; Elizabeth R Roeder; Victoria B Enciso; A Craig Chinault; Ankita Patel; Sung-Hae L Kang; Chad A Shaw; James R Lupski; Sau W Cheung
Journal:  Genome Res       Date:  2011-01       Impact factor: 9.043

6.  Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies.

Authors:  Hyung-Goo Kim; Hyun-Taek Kim; Natalia T Leach; Fei Lan; Reinhard Ullmann; Asli Silahtaroglu; Ingo Kurth; Anja Nowka; Ihn Sik Seong; Yiping Shen; Michael E Talkowski; Douglas Ruderfer; Ji-Hyun Lee; Caron Glotzbach; Kyungsoo Ha; Susanne Kjaergaard; Alex V Levin; Bernd F Romeike; Tjitske Kleefstra; Oliver Bartsch; Sarah H Elsea; Ethylin Wang Jabs; Marcy E MacDonald; David J Harris; Bradley J Quade; Hans-Hilger Ropers; Lisa G Shaffer; Kerstin Kutsche; Lawrence C Layman; Niels Tommerup; Vera M Kalscheuer; Yang Shi; Cynthia C Morton; Cheol-Hee Kim; James F Gusella
Journal:  Am J Hum Genet       Date:  2012-07-05       Impact factor: 11.025

7.  Construction and phenotypic analysis of mice carrying a duplication of the major histocompatibility class I (MHC-I) locus.

Authors:  Olga Ermakova; Ekaterina Salimova; Lukasz Piszczek; Cornelius Gross
Journal:  Mamm Genome       Date:  2012-07-07       Impact factor: 2.957

8.  A case of 3q29 microdeletion syndrome involving oral cleft inherited from a nonaffected mosaic parent: molecular analysis and ethical implications.

Authors:  Aline L Petrin; Sandra Daack-Hirsch; Jamie L'Heureux; Jeffrey C Murray
Journal:  Cleft Palate Craniofac J       Date:  2010-05-04

9.  The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

Authors:  David A Koolen; Rolph Pfundt; Katrin Linda; Gea Beunders; Hermine E Veenstra-Knol; Jessie H Conta; Ana Maria Fortuna; Gabriele Gillessen-Kaesbach; Sarah Dugan; Sara Halbach; Omar A Abdul-Rahman; Heather M Winesett; Wendy K Chung; Marguerite Dalton; Petia S Dimova; Teresa Mattina; Katrina Prescott; Hui Z Zhang; Howard M Saal; Jayne Y Hehir-Kwa; Marjolein H Willemsen; Charlotte W Ockeloen; Marjolijn C Jongmans; Nathalie Van der Aa; Pinella Failla; Concetta Barone; Emanuela Avola; Alice S Brooks; Sarina G Kant; Erica H Gerkes; Helen V Firth; Katrin Õunap; Lynne M Bird; Diane Masser-Frye; Jennifer R Friedman; Modupe A Sokunbi; Abhijit Dixit; Miranda Splitt; Mary K Kukolich; Julie McGaughran; Bradley P Coe; Jesús Flórez; Nael Nadif Kasri; Han G Brunner; Elizabeth M Thompson; Jozef Gecz; Corrado Romano; Evan E Eichler; Bert B A de Vries
Journal:  Eur J Hum Genet       Date:  2015-08-26       Impact factor: 4.246

10.  Identification of copy number variants associated with BPES-like phenotypes.

Authors:  Antoinet C J Gijsbers; Barbara D'haene; Yvonne Hilhorst-Hofstee; Marcel Mannens; Beate Albrecht; Joerg Seidel; David R Witt; Melissa K Maisenbacher; Bart Loeys; Ton van Essen; Egbert Bakker; Raoul Hennekam; Martijn H Breuning; Elfride De Baere; Claudia A L Ruivenkamp
Journal:  Hum Genet       Date:  2008-10-25       Impact factor: 4.132
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