Candidate loci for Zimmermann-Laband syndrome at 3p14.3

Hyung Goo Kim, Anne W. Higgins, Steven R. Herrick, Shotaro Kishikawa, Linda Nicholson, Kerstin Kutsche, Azra H. Ligon, David J. Harris, Marcy E. MacDonald, Gail A.P. Bruns, Cynthia C. Morton, Bradley J. Quade, James F. Gusella

Research output: Contribution to journalArticle

16 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)107-111
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume143
Issue number2
DOIs
StatePublished - Jan 15 2007

Keywords

  • CACNA2D3
  • Chromosome translocation
  • ERC2
  • Gingival hyperplasia
  • Hypertrichosis
  • LRTM1
  • Unusual facies
  • WNT5A
  • Zimmermann-Laband syndrome

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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  • Cite this

    Kim, H. G., Higgins, A. W., Herrick, S. R., Kishikawa, S., Nicholson, L., Kutsche, K., Ligon, A. H., Harris, D. J., MacDonald, M. E., Bruns, G. A. P., Morton, C. C., Quade, B. J., & Gusella, J. F. (2007). Candidate loci for Zimmermann-Laband syndrome at 3p14.3. American Journal of Medical Genetics, Part A, 143(2), 107-111. https://doi.org/10.1002/ajmg.a.31544