PMID- 17163523
OWN - NLM
STAT- MEDLINE
DCOM- 20070302
LR  - 20220409
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 143A
IP  - 2
DP  - 2007 Jan 15
TI  - Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
PG  - 107-11
AB  - A male with 46,XY,t(3;17)(p14.3;q24.3) presented with gingival hyperplasia, 
      hypertrichosis, unusually large ears and marked hypertrophy of the nose, 
      characteristic of the Zimmermann-Laband syndrome (ZLS). Other features include 
      large facial bones and mandibles, large protruding upper lip, enlarged fingers 
      and toes, strabismus, and enlarged phallus. Knowledge of a 
      46,XX,t(3;8)(p21.2;q24.3) reported previously in a mother and daughter with ZLS 
      suggests that the 3p14.3-p21.2 region may contain a gene responsible for ZLS. We 
      have reassessed the chromosome 3 breakpoint region of the t(3;8) and revised its 
      breakpoint location to 3p14.3, based upon an updated human genome sequence 
      assembly. Using fluorescence in situ hybridization (FISH) with BAC clones, we 
      have also identified a breakpoint spanning clone at 3p14.3 in our t(3;17) 
      patient, thereby narrowing the breakpoint to a region of approximately 200 kb. 
      These data suggest that the gene responsible for ZLS is located in 3p14.3 and 
      implicates four likely candidate genes in this region: CACNA2D3, encoding a 
      voltage-dependent calcium channel, LRTM1, a gene of unknown function embedded 
      within CACNA2D3, WNT5A, encoding a secreted signaling protein of the WNT family, 
      and ERC2, which codes for a synapse protein.
CI  - (c) 2006 Wiley-Liss, Inc
FAU - Kim, Hyung-Goo
AU  - Kim HG
AD  - Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts 
      General Hospital/Department of Genetics, Harvard Medical School, Boston, 
      Massachusetts, USA.
FAU - Higgins, Anne W
AU  - Higgins AW
FAU - Herrick, Steven R
AU  - Herrick SR
FAU - Kishikawa, Shotaro
AU  - Kishikawa S
FAU - Nicholson, Linda
AU  - Nicholson L
FAU - Kutsche, Kerstin
AU  - Kutsche K
FAU - Ligon, Azra H
AU  - Ligon AH
FAU - Harris, David J
AU  - Harris DJ
FAU - MacDonald, Marcy E
AU  - MacDonald ME
FAU - Bruns, Gail A P
AU  - Bruns GA
FAU - Morton, Cynthia C
AU  - Morton CC
FAU - Quade, Bradley J
AU  - Quade BJ
FAU - Gusella, James F
AU  - Gusella JF
LA  - eng
GR  - P01 GM061354/GM/NIGMS NIH HHS/United States
GR  - GM061354/GM/NIGMS NIH HHS/United States
GR  - HD28138/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
RN  - 0 (Adaptor Proteins, Signal Transducing)
RN  - 0 (Calcium Channels, L-Type)
RN  - 0 (Cytoskeletal Proteins)
RN  - 0 (ERC2 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (WNT5A protein, human)
RN  - 0 (Wnt Proteins)
RN  - 0 (Wnt-5a Protein)
SB  - IM
MH  - Adaptor Proteins, Signal Transducing
MH  - Calcium Channels, L-Type/genetics
MH  - Cell Line
MH  - Chromosome Breakage
MH  - Chromosomes, Human, Pair 3/*genetics
MH  - Craniofacial Abnormalities/*genetics/pathology
MH  - Cytoskeletal Proteins
MH  - Fibroblasts
MH  - Gingival Hyperplasia/*genetics/pathology
MH  - Humans
MH  - Hypertrichosis/*genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Proto-Oncogene Proteins/genetics
MH  - Syndrome
MH  - *Translocation, Genetic
MH  - Wnt Proteins/genetics
MH  - Wnt-5a Protein
EDAT- 2006/12/14 09:00
MHDA- 2007/03/03 09:00
CRDT- 2006/12/14 09:00
PHST- 2006/12/14 09:00 [pubmed]
PHST- 2007/03/03 09:00 [medline]
PHST- 2006/12/14 09:00 [entrez]
AID - 10.1002/ajmg.a.31544 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2007 Jan 15;143A(2):107-11. doi: 10.1002/ajmg.a.31544.