TY - JOUR
T1 - Candidate loci for Zimmermann-Laband syndrome at 3p14.3
AU - Kim, Hyung Goo
AU - Higgins, Anne W.
AU - Herrick, Steven R.
AU - Kishikawa, Shotaro
AU - Nicholson, Linda
AU - Kutsche, Kerstin
AU - Ligon, Azra H.
AU - Harris, David J.
AU - MacDonald, Marcy E.
AU - Bruns, Gail A.P.
AU - Morton, Cynthia C.
AU - Quade, Bradley J.
AU - Gusella, James F.
PY - 2007/1/15
Y1 - 2007/1/15
N2 - 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.
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.
KW - CACNA2D3
KW - Chromosome translocation
KW - ERC2
KW - Gingival hyperplasia
KW - Hypertrichosis
KW - LRTM1
KW - Unusual facies
KW - WNT5A
KW - Zimmermann-Laband syndrome
UR - http://www.scopus.com/inward/record.url?scp=33845975676&partnerID=8YFLogxK
U2 - 10.1002/ajmg.a.31544
DO - 10.1002/ajmg.a.31544
M3 - Article
C2 - 17163523
AN - SCOPUS:33845975676
SN - 1552-4825
VL - 143
SP - 107
EP - 111
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 2
ER -