Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
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Candidate loci for Zimmermann-Laband syndrome at 3p14.3. / Hyung-Goo, Kim; Higgins Anne, W; Herrick Steven, R; Kishikawa, Shotaro; Nicholson, Linda; Kutsche, Kerstin; Ligon Azra, H; Harris David, J; Macdonald Marcy, E; Bruns Gail, A P; Morton Cynthia, C; Quade Bradley, J; Gusella James, F.
in: AM J MED GENET A, Jahrgang 143, Nr. 2, 2, 2007, S. 107-111.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
AU - Hyung-Goo, Kim
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
Y1 - 2007
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.
M3 - SCORING: Zeitschriftenaufsatz
VL - 143
SP - 107
EP - 111
JO - AM J MED GENET A
JF - AM J MED GENET A
SN - 1552-4825
IS - 2
M1 - 2
ER -
