Germline mosacism in Shprintzen-Goldberg syndrome

Alan L. Shanske; James T. Goodrich; Leena Ala-Kokko; Stuart Baker; Barbara Frederick; Brynn Levy

doi:10.1002/ajmg.a.35388

Germline mosacism in Shprintzen-Goldberg syndrome

Alan L. Shanske, James T. Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Brynn Levy

Neurological Surgery

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8 Scopus citations

Abstract

We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS.

Original language	English (US)
Pages (from-to)	1574-1578
Number of pages	5
Journal	American Journal of Medical Genetics, Part A
Volume	158 A
Issue number	7
DOIs	https://doi.org/10.1002/ajmg.a.35388
State	Published - Jul 2012

Keywords

Chromosome 15
FBN1
Germline mosaicism
Shprintzen-Goldberg syndrome
TGFBR1/2
Tetrasomy

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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title = "Germline mosacism in Shprintzen-Goldberg syndrome",

abstract = "We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS.",

keywords = "Chromosome 15, FBN1, Germline mosaicism, Shprintzen-Goldberg syndrome, TGFBR1/2, Tetrasomy",

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T1 - Germline mosacism in Shprintzen-Goldberg syndrome

AU - Shanske, Alan L.

AU - Goodrich, James T.

AU - Ala-Kokko, Leena

AU - Baker, Stuart

AU - Frederick, Barbara

AU - Levy, Brynn

PY - 2012/7

Y1 - 2012/7

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AB - We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen-Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS.

KW - Chromosome 15

KW - FBN1

KW - Germline mosaicism

KW - Shprintzen-Goldberg syndrome

KW - TGFBR1/2

KW - Tetrasomy

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JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

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Germline mosacism in Shprintzen-Goldberg syndrome

Abstract

Keywords

ASJC Scopus subject areas

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