PMID- 12509719
OWN - NLM
STAT- MEDLINE
DCOM- 20030507
LR  - 20220210
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 4
IP  - 6
DP  - 2002 Nov-Dec
TI  - Cardiac phenotypes in chromosome 4q- syndrome with and without a deletion of the 
      dHAND gene.
PG  - 464-7
AB  - PURPOSE: Terminal deletions of chromosome 4q are commonly associated with 
      cardiovascular malformations (CVMs). The dHAND gene (HAND2 heart and neural crest 
      derivative express 2), a basic helix-loop-helix transcription factor expressed in 
      the developing heart, maps to 4q33. A targeted deletion in mouse shows that dHAND 
      plays an important role in heart development, suggesting that haploinsufficiency 
      of in patients with 4q deletions may be causal for CVMs. The purpose of this 
      study is to examine the possible association between dHAND haploinsufficiency 
      with the CVMs that occur in patients with 4q terminal deletions. METHODS: 
      Fluorescence in situ hybridization (FISH) was performed with a dHAND human 
      genomic probe on five patients with terminal deletion at 4q33 or 4q34. RESULTS: 
      Of the three patients with a deletion of the dHAND locus, two had CVM (both 
      valvar pulmonic stenosis). Of the two patients without a deletion of the dHAND 
      gene, one had a small atrial septal defect noted on autopsy. In one of the 
      patients with breakpoint on chromosome 4 assigned to 4q34.2 by GTG-banding, FISH 
      revealed deletion of the dHAND gene. CONCLUSION: The results suggest that cardiac 
      phenotypes are very variable in patients with the terminal deletion of chromosome 
      4q and that haploinsufficiency of the dHAND is not necessarily associated with 
      CVMs. The correct cytogenetic interpretation of terminal chromosome deletions 
      might be augmented by FISH.
FAU - Huang, Taosheng
AU  - Huang T
AD  - Division of Genetics, Department of Pediatrics, University California, Irvine, 
      California 92697, USA.
FAU - Lin, Angela E
AU  - Lin AE
FAU - Cox, Gerald F
AU  - Cox GF
FAU - Golden, Wendy L
AU  - Golden WL
FAU - Feldman, Gerald L
AU  - Feldman GL
FAU - Ute, Moog
AU  - Ute M
FAU - Schrander-Stumpel, Connie
AU  - Schrander-Stumpel C
FAU - Kamisago, Mitsuhiro
AU  - Kamisago M
FAU - Vermeulen, Stefan J T
AU  - Vermeulen SJ
LA  - eng
GR  - M01 02172/PHS HHS/United States
GR  - M01RR00827/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
RN  - 0 (Basic Helix-Loop-Helix Transcription Factors)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (HAND2 protein, human)
RN  - 0 (Transcription Factors)
RN  - 0 (Zebrafish Proteins)
RN  - 0 (hand2 protein, zebrafish)
SB  - IM
MH  - Adult
MH  - Basic Helix-Loop-Helix Transcription Factors
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Banding
MH  - *Chromosomes, Human, Pair 4
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - *Gene Deletion
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Male
MH  - Transcription Factors/*genetics
MH  - Zebrafish Proteins
EDAT- 2003/01/02 04:00
MHDA- 2003/05/08 05:00
CRDT- 2003/01/02 04:00
PHST- 2003/01/02 04:00 [pubmed]
PHST- 2003/05/08 05:00 [medline]
PHST- 2003/01/02 04:00 [entrez]
AID - S1098-3600(21)03025-2 [pii]
AID - 10.1097/00125817-200211000-00011 [doi]
PST - ppublish
SO  - Genet Med. 2002 Nov-Dec;4(6):464-7. doi: 10.1097/00125817-200211000-00011.