Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3

American Journal of Human Genetics
C CardosoD H Ledbetter


Deletions of 17p13.3, including the LIS1 gene, result in the brain malformation lissencephaly, which is characterized by reduced gyration and cortical thickening; however, the phenotype can vary from isolated lissencephaly sequence (ILS) to Miller-Dieker syndrome (MDS). At the clinical level, these two phenotypes can be differentiated by the presence of significant dysmorphic facial features and a more severe grade of lissencephaly in MDS. Previous work has suggested that children with MDS have a larger deletion than those with ILS, but the precise boundaries of the MDS critical region and causative genes other than LIS1 have never been fully determined. We have completed a physical and transcriptional map of the 17p13.3 region from LIS1 to the telomere. Using fluorescence in situ hybridization, we have mapped the deletion size in 19 children with ILS, 11 children with MDS, and 4 children with 17p13.3 deletions not involving LIS1. We show that the critical region that differentiates ILS from MDS at the molecular level can be reduced to 400 kb. Using somatic cell hybrids from selected patients, we have identified eight genes that are consistently deleted in patients classified as having MDS. In addition, deletion of the genes CR...Continue Reading


Dec 15, 1993·JAMA : the Journal of the American Medical Association·W B DobynsD H Ledbetter
Mar 26, 1999·Journal of Cellular Physiology·S M FellerB S Knudsen
Mar 23, 2001·Genetics in Medicine : Official Journal of the American College of Medical Genetics·D T PilzD H Ledbetter
Feb 21, 2002·Cell·Jeffrey R HoltPeter G Gillespie
Oct 4, 2002·Journal of Medical Genetics·C L MartinD H Ledbetter

❮ Previous
Next ❯


May 26, 2010·Human Genetics·Louise O'DonnellJannine D Cody
Apr 20, 2004·Biochimica Et Biophysica Acta·Stéphanie BertrandDominique Leprince
Aug 30, 2012·European Journal of Human Genetics : EJHG·Seema R LalaniJohn W Belmont
Jan 30, 2010·Journal of Human Genetics·Yuta KomoikeToshiyuki Yamamoto
Jun 22, 2012·Journal of Human Genetics·Keiko ShimojimaToshiyuki Yamamoto
Jan 13, 2009·Nature Genetics·Weimin BiOrly Reiner
Apr 9, 2011·Genetic Testing and Molecular Biomarkers·Katerina HirschfeldovaJitka Stekrova
Nov 26, 2009·Brain : a Journal of Neurology·A James BarkovichWilliam B Dobyns
Jun 16, 2009·Human Molecular Genetics·Rolf J R J JanssenLeo G J Nijtmans
Dec 24, 2009·Human Molecular Genetics·Brett A McCrayJ Paul Taylor
Sep 3, 2010·Human Molecular Genetics·Santhosh Girirajan, Evan E Eichler
Apr 19, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Andrew WongDavid H Ledbetter
Sep 18, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Christa Lese MartinDavid H Ledbetter
Nov 8, 2008·Journal of Pediatric Hematology/oncology·David R CzuchlewskiQian-Yun Zhang
Jan 28, 2004·Genes & Development·Chun-Ming Chen, Richard R Behringer
Jan 12, 2010·Annual Review of Medicine·Paweł Stankiewicz, James R Lupski
Jan 1, 2008·Cytogenetic and Genome Research·W Gu, J R Lupski
Nov 9, 2010·Genome Integrity·Toshiyuki BohgakiRazqallah Hakem
Nov 22, 2011·PLoS Genetics·Santhosh GirirajanEvan E Eichler
Nov 29, 2012·F1000 Biology Reports·Céline HelsmoortelR Frank Kooy
Aug 13, 2013·Cellular and Molecular Life Sciences : CMLS·Troels Askhøj AndersenLars Allan Larsen
Jan 31, 2014·Brain : a Journal of Neurology·Timothy J EdwardsLinda J Richards
Mar 22, 2006·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Sandeep GhaiSusan Blaser
Jun 5, 2014·Human Molecular Genetics·Yi-Ru YuChun-Ming Chen
Jul 20, 2012·Journal of Neurovirology·Diana MoralesSummer F Acevedo
Sep 15, 2005·The Journal of Cell Biology·Mary E Hatten
Nov 26, 2011·Pediatric Neurology·Alex R PaciorkowskiWilliam B Dobyns
Oct 22, 2008·Taiwanese Journal of Obstetrics & Gynecology·Chih-Ping Chen
May 21, 2011·Seminars in Ultrasound, CT, and MR·Sangam Kanekar, Michael Gent
Aug 7, 2010·Seminars in Cell & Developmental Biology·Anthony Wynshaw-BorisShinji Hirotsune
Mar 17, 2010·Epilepsy Research·Keiko ShimojimaToshiyuki Yamamoto
Sep 26, 2009·Seminars in Pediatric Neurology·Ganeshwaran H Mochida

❮ Previous
Next ❯

Related Concepts

Trending Feeds


Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.


Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.


Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.