BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267. CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.
BACKGROUND: The recognition of the 17q21.31 microdeletion syndrome has been facilitated by high resolution microarray technology. Recent clinical delineation of this condition emphasises a typical facial appearance, cardiac and renal defects, and speech delay in addition to intellectual disability, hypotonia and seizures. METHODS AND RESULTS: We describe 11 previously unreported patients expanding the phenotypic spectrum to include aortic root dilatation, recurrent joint subluxation, conductive hearing loss due to chronic otitis media, dental anomalies, and persistence of fetal fingertip pads. Molecular analysis of the deletions demonstrates a critical region spanning 440 kb involving either partially or wholly five genes, CRHR1, IMP5, MAPT, STH, and KIAA1267. CONCLUSION: These data have significant implications for the clinical diagnosis and management of other individuals with 17q21.31 deletions.
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
Authors: Angela T Morgan; Leenke van Haaften; Karen van Hulst; Carol Edley; Cristina Mei; Tiong Yang Tan; David Amor; Simon E Fisher; David A Koolen Journal: Eur J Hum Genet Date: 2017-12-11 Impact factor: 4.246
Authors: David A Koolen; Juliette Dupont; Nicole de Leeuw; Lisenka E L M Vissers; Simone P A van den Heuvel; Alyson Bradbury; James Steer; Arjan P M de Brouwer; Leo P Ten Kate; Willy M Nillesen; Bert B A de Vries; Michael J Parker Journal: Eur J Hum Genet Date: 2012-02-01 Impact factor: 4.246
Authors: Imre Noth; Yingze Zhang; Shwu-Fan Ma; Dan Nicolae; Naftali Kaminski; Joe G N Garcia; Carlos Flores; Mathew Barber; Yong Huang; Steven M Broderick; Michael S Wade; Pirro Hysi; Joseph Scuirba; Thomas J Richards; Brenda M Juan-Guardela; Rekha Vij; MeiLan K Han; Fernando J Martinez; Karl Kossen; Scott D Seiwert; Jason D Christie Journal: Lancet Respir Med Date: 2013-04-17 Impact factor: 30.700