The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

Peter Heutink; Julia Zguricas; Linda van Oosterhout; Guido J. Breedveld; Leon Testers; Lodewijk A. Sandkuijl; Pieter J.L.M. Snijders; Jean Weissenbach; Dick Lindhout; Steven E.R. Hovius; Ben A. Oostra

doi:10.1038/ng0394-287

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

Peter Heutink^*, Julia Zguricas, Linda van Oosterhout, Guido J. Breedveld, Leon Testers, Lodewijk A. Sandkuijl, Pieter J.L.M. Snijders, Jean Weissenbach, Dick Lindhout, Steven E.R. Hovius, Ben A. Oostra

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger-like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but presumably involves genes that regulate the differentiation of the developing forelimb. In two large kindreds with triphalangeal thumb, evidence for linkage to the long arm of chromosome 7 was obtained with a maximum lod score of 12.61. Multipoint linkage and haplotype analysis placed the gene close to the telomere of the long arm. To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized.

Original language	English
Pages (from-to)	287-292
Number of pages	6
Journal	Nature Genetics
Volume	6
Issue number	3
DOIs	https://doi.org/10.1038/ng0394-287
Publication status	Published - Mar 1994
Externally published	Yes

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title = "The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q",

abstract = "Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger-like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but presumably involves genes that regulate the differentiation of the developing forelimb. In two large kindreds with triphalangeal thumb, evidence for linkage to the long arm of chromosome 7 was obtained with a maximum lod score of 12.61. Multipoint linkage and haplotype analysis placed the gene close to the telomere of the long arm. To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized.",

author = "Peter Heutink and Julia Zguricas and \{van Oosterhout\}, Linda and Breedveld, \{Guido J.\} and Leon Testers and Sandkuijl, \{Lodewijk A.\} and Snijders, \{Pieter J.L.M.\} and Jean Weissenbach and Dick Lindhout and Hovius, \{Steven E.R.\} and Oostra, \{Ben A.\}",

year = "1994",

month = mar,

doi = "10.1038/ng0394-287",

language = "English",

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pages = "287--292",

journal = "Nature Genetics",

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T1 - The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

AU - Heutink, Peter

AU - Zguricas, Julia

AU - van Oosterhout, Linda

AU - Breedveld, Guido J.

AU - Testers, Leon

AU - Sandkuijl, Lodewijk A.

AU - Snijders, Pieter J.L.M.

AU - Weissenbach, Jean

AU - Lindhout, Dick

AU - Hovius, Steven E.R.

AU - Oostra, Ben A.

PY - 1994/3

Y1 - 1994/3

N2 - Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger-like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but presumably involves genes that regulate the differentiation of the developing forelimb. In two large kindreds with triphalangeal thumb, evidence for linkage to the long arm of chromosome 7 was obtained with a maximum lod score of 12.61. Multipoint linkage and haplotype analysis placed the gene close to the telomere of the long arm. To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized.

AB - Triphalangeal thumb is a developmental anomaly, sometimes dominantly transmitted, characterized by a long, finger-like thumb with three phalanges instead of two. The underlying genetic defect is unknown, but presumably involves genes that regulate the differentiation of the developing forelimb. In two large kindreds with triphalangeal thumb, evidence for linkage to the long arm of chromosome 7 was obtained with a maximum lod score of 12.61. Multipoint linkage and haplotype analysis placed the gene close to the telomere of the long arm. To our knowledge this is the first time that a human gene involved solely in the pathologic morphogenesis of the hand and feet has been localized.

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DO - 10.1038/ng0394-287

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SN - 1061-4036

VL - 6

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EP - 292

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

The gene for triphalangeal thumb maps to the subtelomeric region of chromosome 7q

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