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

Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Research Abstract Details 

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Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Abstract Text:

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,

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.

Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Publishing Authors By Initials

HG Kim,AW Higgins,SR Herrick,S Kishikawa,L Nicholson,K Kutsche,AH Ligon,DJ Harris,ME Macdonald,GA Bruns,CC Morton,BJ Quade,JF Gusella,

For similar peptides: intercellular signaling peptides and proteins: wnt proteins research abstracts see: peptides: intercellular signaling peptides and proteins: wnt proteins research

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Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: American journal of medical genetics. Part A

VOLUME: 143

Page Numbers: 107-11

Journal Abbreviation: Am. J. Med. Genet. A

ISSN: 1552-4825

DAY: 15

MONTH: Jan

YEAR: 2007

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

Number of References:

LANGUAGE: eng

NlmUniqueID: 101235741

Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Keywords Mesh Terms:

KEYWORDS: Wnt Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Candidate loci for Zimmermann-Laband syndrome at 3p14.3. Information

Substance Name: Wnt Proteins

Registry Number: 0

Grant and Affiliation Information for Candidate loci for Zimmermann-Laband syndrome at 3p14.3.

AFFILIATION: Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital/Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

Country: United States

AGENCY: United States NICHD

GRANT: HD28138

ACRONYM: HD

MEDLINETA: Am J Med Genet A

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