Molecular testing in holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Paul KruszkaM Muenke

Abstract

Holoprosencephaly (HPE) is a structural brain anomaly characterized by failure of the forebrain to separate during early embryogenesis. Both genetic and environmental etiologies of HPE have been discovered over the last three decades. Traditionally, the genetic workup for HPE has been a karyotype, chromosomal microarray, and/or Sanger sequencing of select genes. The recent increased availability of next-generation sequencing has changed the molecular diagnostic landscape for HPE, associating new genes with this disorder such as FGFR1. We conducted a systematic review of the medical literature for the molecular testing of HPE for studies published in the last 20 years. We also queried known commercial diagnostic laboratories and used information on their websites to construct a list of available commercial testing. Our group released its first recommendations in 2010 and this update incorporates the technology shifts and gene discoveries over the last decade. These recommendations provide a guide for genetic diagnosis of HPE, which is paramount for patients and their families for prognosis, treatment, and genetic counseling.

References

Sep 25, 1997·Human Molecular Genetics·A WildK H Grzeschik
Sep 5, 1998·Journal of Inherited Metabolic Disease·E Roessler, M Muenke
Sep 27, 2006·American Journal of Medical Genetics. Part a·Lucilene Arilho RibeiroAntonio Richieri-Costa
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lisa G ShafferTamim Shaikh
Feb 21, 2008·Orphanet Journal of Rare Diseases·Catherine Turleau
Jun 3, 2009·The Journal of Clinical Investigation·Xin Geng, Guillermo Oliver
Jun 26, 2009·Molecular Genetics and Metabolism·Erich RoesslerMaximilian Muenke
Jan 28, 2010·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Daniel E Pineda-AlvarezMaximilian Muenke
Jun 10, 2010·European Journal of Human Genetics : EJHG·Aimée D C PaulussenJos Herbergs
Jun 22, 2010·Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology·K O KaganK H Nicolaides
Jun 29, 2010·American Journal of Medical Genetics. Part a·Lucilene Arilho RibeiroAntonio Richieri-Costa
Jan 5, 2011·Human Molecular Genetics·Valérie DupéVéronique David
Mar 30, 2011·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Leslie G Biesecker
Aug 13, 2011·The Journal of Clinical Endocrinology and Metabolism·Mark J McCabeMehul T Dattani
Jul 3, 2013·Journal of Medical Genetics·Nicolas SimonisCatheline Vilain
Jul 31, 2013·Human Mutation·Joep de LigtJayne Y Hehir-Kwa
Apr 20, 2014·Journal of Medical Genetics·Kelly A BearMaximilian Muenke
Sep 15, 2014·Human Genetics·Naseebullah KakarGuntram Borck
Jan 9, 2015·The Journal of Craniofacial Surgery·Paul KruszkaMutaz B Habal
Feb 7, 2015·PloS One·Charlotte MoudenVéronique David
May 15, 2015·American Journal of Medical Genetics. Part a·Kelly A Bear, Benjamin D Solomon
Jan 6, 2016·American Journal of Medical Genetics. Part a·Gabriela E JonesGeorge A Tanteles
Jan 9, 2016·Human Genetics·Janine MeienbergGabor Matyas
Jul 2, 2016·Human Mutation·Christèle DubourgVéronique David
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Jun 24, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Karin WeissMaximilian Muenke
Jul 4, 2017·Congenital Anomalies·Bethany StokesMaximilian Muenke
Aug 3, 2016·NPJ Genomic Medicine·Aaron C NollStephen F Kingsmore
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich RoesslerMaximilian Muenke
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul Kruszka, Maximilian Muenke

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Citations

Sep 6, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Paul KruszkaMaximilian Muenke
Jul 25, 2019·Brain : a Journal of Neurology·Paul KruszkaMaximilian Muenke
Jul 30, 2019·American Journal of Medical Genetics. Part a·Antonio Richieri-CostaFernanda S Jehee
Jul 10, 2019·Clinical Genetics·Cedrik Tekendo-NgongangMaximilian Muenke
Dec 18, 2019·American Journal of Medical Genetics. Part a·Tara DalyOlaf Bodamer
Jun 10, 2020·Environmental Health : a Global Access Science Source·Yonit A AddissieMaximilian Muenke
Oct 29, 2020·Birth Defects Research·Yonit A AddissiePaul Kruszka

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