Premium
Candidate loci for Zimmermann–Laband syndrome at 3p14.3
Author(s) -
Kim HyungGoo,
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.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31544
Subject(s) - breakpoint , biology , genetics , gene , candidate gene , chromosome
Abstract 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. © 2006 Wiley‐Liss, Inc.