caa a22 4500 39757584X CHVBK 20180308164856.0 cr unu---uuuuu 161202e199602 xx s 000 0 eng 10.1093/hmg/5.2.223 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.2.223 Molecular Characterization of Breakpoints in Patients with Holoprosencephaly and Definition of the HPE2 Critical Region 2p21 [Elektronische Daten] [Ute Schell, Johannes Wienberg, Angelika Köhler, Patricia Bray-Ward, Deeann E. Ward, William G. Wilson, William P. Allen, Robert R. Lebel, Jeffrey R. Sawyer, Paul L. Campbell, David J. Aughton, Hope H. Punnett, Edward J. Lammer, Fa-Ten Kao, David C. Ward, Maximilian Muenke] Holoprosencephaly (HPE) is a common developmental defect involving the brain and face in humans. Cytogenetic deletions in patients with HPE have localized one of the HPE genes (HPE2) to the chromosomal region 2p21. Here we report the molecular genetic characterization of nine HPE patients with cytogenetic deletions or translocations involving 2p21. We have determined the parental origin of the deleted chromosomes and defined the HPE2 critical region between D2S119 and D2S88/D2S391. As a first step towards cloning the HPE2 gene which is crucial for normal brain development we have constructed a YAC contig which spans the smallest region of deletion overlap. Several of these YACs could be identified which span three different 2p21 breakpoints in HPE patients. These YACs narrow the HPE2 critical region to less than 1 Mb and are now being further analyzed to identify the gene causing holoprosencephaly on chromosome 2. © 1996 Oxford University Press Schell Ute The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA aut Wienberg Johannes Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut Köhler Angelika The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA aut Bray-Ward Patricia Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut Ward Deeann E. Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut Wilson William G. Department of Pediatrics, University of Virginia, Charlottesville, VA 22908, USA aut Allen William P. Greenwood Genetics Center, Greenwood, SC 29646, USA aut Lebel Robert R. Genetics Services, Elmhurst, IL 60126, USA aut Sawyer Jeffrey R. Arkansas Children's Hospital, Little Rock, AR 72202, USA aut Campbell Paul L. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK aut Aughton David J. Beaumont Hospital, Royal Oak, MI 48073, USA aut Punnett Hope H. St Christopher's Hospital for Children, Philadelphia, PA 19134, USA aut Lammer Edward J. Stanford University, Stanford, CA 94305, USA aut Kao Fa-Ten Eleanor Roosevelt Institute, Denver, CO 80206, USA aut Ward David C. Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut Muenke Maximilian Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut Human Molecular Genetics Oxford University Press 5/2(1996-02), 223-229 0964-6906 5:2<223 1996 5 hmg https://doi.org/10.1093/hmg/5.2.223 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.2.223 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Schell Ute The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA aut NATIONALLICENCE 700 1- Wienberg Johannes Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut NATIONALLICENCE 700 1- Köhler Angelika The Children's Hospital of Philadelphia, Division of Human Genetics and Molecular Biology and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104-4399, USA aut NATIONALLICENCE 700 1- Bray-Ward Patricia Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut NATIONALLICENCE 700 1- Ward Deeann E. Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut NATIONALLICENCE 700 1- Wilson William G. Department of Pediatrics, University of Virginia, Charlottesville, VA 22908, USA aut NATIONALLICENCE 700 1- Allen William P. Greenwood Genetics Center, Greenwood, SC 29646, USA aut NATIONALLICENCE 700 1- Lebel Robert R. Genetics Services, Elmhurst, IL 60126, USA aut NATIONALLICENCE 700 1- Sawyer Jeffrey R. Arkansas Children's Hospital, Little Rock, AR 72202, USA aut NATIONALLICENCE 700 1- Campbell Paul L. Wessex Regional Genetics Laboratory, Salisbury District Hospital, Salisbury SP2 8BJ, UK aut NATIONALLICENCE 700 1- Aughton David J. Beaumont Hospital, Royal Oak, MI 48073, USA aut NATIONALLICENCE 700 1- Punnett Hope H. St Christopher's Hospital for Children, Philadelphia, PA 19134, USA aut NATIONALLICENCE 700 1- Lammer Edward J. Stanford University, Stanford, CA 94305, USA aut NATIONALLICENCE 700 1- Kao Fa-Ten Eleanor Roosevelt Institute, Denver, CO 80206, USA aut NATIONALLICENCE 700 1- Ward David C. Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut NATIONALLICENCE 700 1- Muenke Maximilian Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/2(1996-02), 223-229 0964-6906 5:2<223 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford