PMID- 21204220
OWN - NLM
STAT- MEDLINE
DCOM- 20110517
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Linking)
VI  - 155A
IP  - 1
DP  - 2011 Jan
TI  - Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: 
      Report of a new patient.
PG  - 130-3
LID - 10.1002/ajmg.a.33652 [doi]
AB  - We report on a female patient with Dandy-Walker malformation possibly caused by 
      heterozygous loss of ZIC1 and ZIC4. The patient presented with mental 
      retardation, epilepsy, and multiple congenital malformations including spina 
      bifida, mild dysmorphic facial features including, thick eyebrows, broad nose, 
      full lips, macroglossia, and hypoplasia of the cerebellar vermis with enlargement 
      of the fourth ventricle on brain magnetic resonance imaging, which is consistent 
      with Dandy-Walker malformation. A chromosome analysis showed interstitial 
      deletion of chromosome 3q23-q25.1. Fluorescence in situ hybridization (FISH) and 
      microarray-based genomic analysis revealed the heterozygous deletion of ZIC1 and 
      ZIC4 loci on 3q24. Her facial features were not consistent with those observed in 
      blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) involving FOXL2 
      abnormality. Other deleted genes at 3q23-25.1 might contribute to the dysmorphic 
      facial appearance. A milder phenotype as the Dandy-Walker malformation in our 
      patient supports the idea that modifying loci/genes can influence the development 
      of cerebellar malformation.
CI  - Copyright (c) 2010 Wiley-Liss, Inc.
FAU - Tohyama, Jun
AU  - Tohyama J
AD  - Department of Pediatrics, Nishi-Niigata Chuo National Hospital, Japan. 
      jtohyama@masa.go.jp
FAU - Kato, Mitsuhiro
AU  - Kato M
FAU - Kawasaki, Sari
AU  - Kawasaki S
FAU - Harada, Naoki
AU  - Harada N
FAU - Kawara, Hiroki
AU  - Kawara H
FAU - Matsui, Takeshi
AU  - Matsui T
FAU - Akasaka, Noriyuki
AU  - Akasaka N
FAU - Ohashi, Tsukasa
AU  - Ohashi T
FAU - Kobayashi, Yu
AU  - Kobayashi Y
FAU - Matsumoto, Naomichi
AU  - Matsumoto N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20101210
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Nerve Tissue Proteins)
RN  - 0 (Transcription Factors)
RN  - 0 (ZIC1 protein, human)
RN  - 0 (ZIC4 protein, human)
SB  - IM
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Dandy-Walker Syndrome/*genetics/pathology
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Microarray Analysis
MH  - Nerve Tissue Proteins/*genetics
MH  - *Phenotype
MH  - Transcription Factors/*genetics
EDAT- 2011/01/05 06:00
MHDA- 2011/05/18 06:00
CRDT- 2011/01/05 06:00
PHST- 2010/02/10 00:00 [received]
PHST- 2010/07/09 00:00 [accepted]
PHST- 2011/01/05 06:00 [entrez]
PHST- 2011/01/05 06:00 [pubmed]
PHST- 2011/05/18 06:00 [medline]
AID - 10.1002/ajmg.a.33652 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2011 Jan;155A(1):130-3. doi: 10.1002/ajmg.a.33652. Epub 2010 
      Dec 10.