Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Research Abstract Details 

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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Abstract Text:

Christiane Zweier,Heinrich Sticht,Inci ,Christine E Campbell,Anita Rauch,

Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes. Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome. Although, for the two truncating mutations, loss of function was previously shown, the pathomechanism of the missense mutations remains unknown. We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex. We therefore conclude that TBX1 gain-of-function mutations can result in the same phenotypic spectrum as haploinsufficiency caused by loss-of-function mutations or deletions.

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Publishing Authors By Initials

C Zweier,H Sticht,I ,CE Campbell,A Rauch,

For similar proteins: dna-binding proteins: t-box domain proteins research abstracts see: proteins: dna-binding proteins: t-box domain proteins research

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Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: American journal of human genetics

VOLUME: 80

Page Numbers: 510-7

Journal Abbreviation: Am. J. Hum. Genet.

ISSN: 0002-9297

DAY: 18

MONTH: 01

YEAR: 2007

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 370475

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Keywords Mesh Terms:

KEYWORDS: T-Box Domain Proteins

MESH TERMS: genetics

Chemical & Substance for Abstract: Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Information

Substance Name: TBX1 protein, human

Registry Number: 0

Grant and Affiliation Information for Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.

AFFILIATION: Institute of Human Genetics, Erlangen, Germany.

Country: United States

AGENCY: United States NIDDK

GRANT: DK48796

ACRONYM: DK

MEDLINETA: Am J Hum Genet

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ACCESSION NUMBER: NT_011519

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