Microarray and FISH-based genotype-phenotype analysis of 22 Japanese patients with Wolf-Hirschhorn syndrome

American Journal of Medical Genetics. Part a
Kenji ShimizuYoshimitsu Fukushima

Abstract

Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion syndrome of the distal 4p chromosome, characterized by craniofacial features, growth impairment, intellectual disability, and seizures. Although genotype-phenotype correlation studies have previously been published, several important issues remain to be elucidated including seizure severity. We present detailed clinical and molecular-cytogenetic findings from a microarray and fluorescence in situ hybridization (FISH)-based genotype-phenotype analysis of 22 Japanese WHS patients, the first large non-Western series. 4p deletions were terminal in 20 patients and interstitial in two, with deletion sizes ranging from 2.06 to 29.42 Mb. The new Wolf-Hirschhorn syndrome critical region (WHSCR2) was deleted in all cases, and duplication of other chromosomal regions occurred in four. Complex mosaicism was identified in two cases: two different 4p terminal deletions; a simple 4p terminal deletion and an unbalanced translocation with the same 4p breakpoint. Seizures began in infancy in 33% (2/6) of cases with small (<6 Mb) deletions and in 86% (12/14) of cases with larger deletions (>6 Mb). Status epilepticus occurred in 17% (1/6) with small deletions and in 87% (13/15) with larg...Continue Reading

References

May 9, 1995·Proceedings of the National Academy of Sciences of the United States of America·T E WillnowJ Herz
Feb 1, 1997·Human Molecular Genetics·T J WrightM R Altherr
Apr 6, 2000·American Journal of Medical Genetics·J J EngelenA J Hamers
Sep 20, 2000·American Journal of Medical Genetics·M ZollinoG Neri
Jul 4, 2001·Journal of Medical Genetics·C FrancannetL Legeai-Mallet
Dec 26, 2001·American Journal of Medical Genetics·M SyrrouJ P Fryns
Sep 5, 2002·American Journal of Medical Genetics·Naoki HaradaNaomichi Matsumoto
Jul 22, 2004·European Journal of Human Genetics : EJHG·Tiziano PramparoOrsetta Zuffardi
Jan 22, 2005·Epilepsia·Kuriko Kagitani-ShimonoKeiichi Ozono
Feb 26, 2005·American Journal of Medical Genetics. Part a·Taketo OtsukaShuichi Tomizawa
Jun 11, 2005·American Journal of Medical Genetics. Part a·Laura RodríguezMaría Luisa Martínez-Frías
Nov 15, 2006·American Journal of Medical Genetics. Part a·Blake C BallifBassem A Bejjani
Mar 6, 2007·The International Journal of Biochemistry & Cell Biology·G Chinnadurai
May 8, 2007·American Journal of Medical Genetics. Part a·Francesca FaravelliMarcella Zollino
Aug 30, 2007·European Journal of Human Genetics : EJHG·Sarah T SouthArthur R Brothman
Apr 17, 2008·Journal of Medical Genetics·S T SouthA R Brothman
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marcella ZollinoGiovanni Neri
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Sarah T SouthMarcella Zollino
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Ruth Simon, Andrew D Bergemann
Oct 22, 2008·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Agatino BattagliaJohn C Carey
Apr 22, 2009·Developmental Medicine and Child Neurology·Agatino BattagliaJohn C Carey
Apr 23, 2009·Disease Models & Mechanisms·Catarina CatelaPascal Te Welscher
Sep 19, 2009·American Journal of Medical Genetics. Part a·Jia-Chi WangMałgorzata J M Nowaczyk
Sep 11, 2010·American Journal of Medical Genetics. Part a·Matthew HandKaren D Tsuchiya
Jul 12, 2011·American Journal of Medical Genetics. Part a·Piotr S IwanowskiAlina T Midro

❮ Previous
Next ❯

Citations

Jan 23, 2016·Brain & Development·Ayako ItakuraYoshihiro Maegaki
Nov 1, 2018·Congenital Anomalies·Keiko Yamamoto-ShimojimaToshiyuki Yamamoto
May 4, 2018·BioMed Research International·Thiago CorrêaMariluce Riegel
May 26, 2018·Human Genome Variation·Hirokazu MorokawaTomoki Kosho
Mar 25, 2021·American Journal of Medical Genetics. Part a·Agatino BattagliaJohn C Carey

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

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

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.

Microbicide

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.