Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

C. E. Schwartz; G. Gillessen-Kaesbach; M. May; M. Cappa; J. Gorski; K. Steindl; G. Neri

doi:10.1038/sj.ejhg.5200553

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

C. E. Schwartz^*, G. Gillessen-Kaesbach, M. May, M. Cappa, J. Gorski, K. Steindl, G. Neri

^*Corresponding author for this work

Institute of Human Genetics

46 Citations (Scopus)

Abstract

The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.

Original language	English
Journal	European Journal of Human Genetics
Volume	8
Issue number	11
Pages (from-to)	869-874
Number of pages	6
ISSN	1018-4813
DOIs	https://doi.org/10.1038/sj.ejhg.5200553
Publication status	Published - 2000

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Research Area: Medical Genetics

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title = "Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome",

abstract = "The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.",

author = "Schwartz, {C. E.} and G. Gillessen-Kaesbach and M. May and M. Cappa and J. Gorski and K. Steindl and G. Neri",

note = "Funding Information: This research was supported in part by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN) and a NICHD grant (HD26202) to CES.",

year = "2000",

doi = "10.1038/sj.ejhg.5200553",

language = "English",

volume = "8",

pages = "869--874",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

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TY - JOUR

T1 - Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

AU - Schwartz, C. E.

AU - Gillessen-Kaesbach, G.

AU - May, M.

AU - Cappa, M.

AU - Gorski, J.

AU - Steindl, K.

AU - Neri, G.

N1 - Funding Information: This research was supported in part by a grant from the South Carolina Department of Disabilities and Special Needs (SCDDSN) and a NICHD grant (HD26202) to CES.

PY - 2000

Y1 - 2000

N2 - The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.

AB - The Aarskog syndrome or facio-genital dysplasia (FGDY, MIM No. 305400) is an X-linked condition characterized by short stature, macrocephaly, facial, genital and skeletal anomalies. It is caused by mutation of the FGD1 gene mapped to the Xp11.21 region. To date, only one point mutation has been reported in an affected family, consisting of the insertion of an additional guanine residue at nucleotide 2122 of exon 7, which causes premature translational termination. We now report the finding of two novel FGD1 mutations, a missense mutation in a family of Italian origin and a deletion of 3 exons in a sporadic case from Germany. These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome.

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DO - 10.1038/sj.ejhg.5200553

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SN - 1018-4813

VL - 8

SP - 869

EP - 874

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 11

ER -

Two novel mutations confirm FGD1 is responsible for the Aarskog syndrome

Abstract

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