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First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome.

Abstract：

:Mutations within the faciogenital dysplasia 1 (FGD1) gene in individuals with clinical features of Aarskog-Scott syndrome (AAS) include missense mutations and insertions and deletions that result in frameshifts and premature terminations. Whole gene deletion and duplication represent other mutational possibilities not yet reported for FGD1 but known to exist for other genes such as MECP2. We report the first case of a boy with clinical features of AAS with deletion of FGD1 gene identified using an oligonucleotide-based X chromosome-specific microarray after attempts to generate amplicons for all of the FGD1 coding exons failed and BAC microarray analysis showed no abnormality.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Bedoyan JK,Friez MJ,DuPont B,Ahmad A

doi

10.1016/j.ejmg.2008.12.001

subject

Has Abstract

pub_date

2009-07-01 00:00:00

pages

262-4

issue

4

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(08)00167-5

journal_volume

52

pub_type

杂志文章

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