PMID- 19471318
OWN - NLM
STAT- MEDLINE
DCOM- 20100120
LR  - 20211020
IS  - 1476-5438 (Electronic)
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 17
IP  - 12
DP  - 2009 Dec
TI  - A novel microdeletion syndrome involving 5q14.3-q15: clinical and molecular 
      cytogenetic characterization of three patients.
PG  - 1592-9
LID - 10.1038/ejhg.2009.90 [doi]
AB  - Molecular karyotyping is being increasingly applied to delineate novel disease 
      causing microaberrations and related syndromes in patients with mental 
      retardation of unknown aetiology. We report on three unrelated patients with 
      overlapping de novo interstitial microdeletions involving 5q14.3-q15. All three 
      patients presented with severe psychomotor retardation, epilepsy or febrile 
      seizures, muscular hypotonia and variable brain and minor anomalies. Molecular 
      karyotyping revealed three overlapping microdeletions measuring 5.7, 3.9 and 3.6 
      Mb, respectively. The microdeletions were identified using single nucleotide 
      polymorphism (SNP) arrays (Affymetrix 100K and Illumina 550K) and array 
      comparative genomic hybridization (1 Mb Sanger array-CGH). Confirmation and 
      segregation studies were performed using fluorescence in situ hybridization 
      (FISH) and quantitative PCR. All three aberrations were confirmed and proven to 
      have occurred de novo. The boundaries and sizes of the deletions in the three 
      patients were different, but an overlapping region of around 1.6 Mb in 5q14.3 was 
      defined. It included five genes: CETN3, AC093510.2, POLR3G, LYSMD3 and the 
      proximal part of GPR98/MASS1, a known epilepsy gene. Haploinsufficiency of 
      GPR98/MASS1 is probably responsible for the seizure phenotype in our patients. At 
      least one other gene contained in the commonly deleted region, LYSMD3, shows a 
      high level of central nervous expression during embryogenesis and is also, 
      therefore, a good candidate gene for other central nervous system (CNS) symptoms, 
      such as psychomotor retardation, brain anomalies and muscular hypotonia of the 
      5q14.3 microdeletion syndrome.
FAU - Engels, Hartmut
AU  - Engels H
AD  - Institute of Human Genetics, Rheinische Friedrich-Wilhelms-University, Bonn, 
      Germany. hartmut.engels@ukb.uni-bonn.de
FAU - Wohlleber, Eva
AU  - Wohlleber E
FAU - Zink, Alexander
AU  - Zink A
FAU - Hoyer, Juliane
AU  - Hoyer J
FAU - Ludwig, Kerstin U
AU  - Ludwig KU
FAU - Brockschmidt, Felix F
AU  - Brockschmidt FF
FAU - Wieczorek, Dagmar
AU  - Wieczorek D
FAU - Moog, Ute
AU  - Moog U
FAU - Hellmann-Mersch, Birgit
AU  - Hellmann-Mersch B
FAU - Weber, Ruthild G
AU  - Weber RG
FAU - Willatt, Lionel
AU  - Willatt L
FAU - Kreiss-Nachtsheim, Martina
AU  - Kreiss-Nachtsheim M
FAU - Firth, Helen V
AU  - Firth HV
FAU - Rauch, Anita
AU  - Rauch A
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090527
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 5/*genetics
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Karyotyping
MH  - Phenotype
MH  - Pregnancy
MH  - Syndrome
PMC - PMC2987012
EDAT- 2009/05/28 09:00
MHDA- 2010/01/21 06:00
PMCR- 2010/12/01
CRDT- 2009/05/28 09:00
PHST- 2009/05/28 09:00 [entrez]
PHST- 2009/05/28 09:00 [pubmed]
PHST- 2010/01/21 06:00 [medline]
PHST- 2010/12/01 00:00 [pmc-release]
AID - ejhg200990 [pii]
AID - 10.1038/ejhg.2009.90 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 2009 Dec;17(12):1592-9. doi: 10.1038/ejhg.2009.90. Epub 2009 May 
      27.