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Article

Exome sequencing identifies a branch point variant in Aarskog-Scott syndrome.

Human mutation - 1 Mar 2013

Aten Emmelien, Sun Yu, Almomani Rowida, Santen Gijs W E, Messemaker Tobias, Maas Saskia M, Breuning Martijn H, den Dunnen Johan T

Abstract excerpt

Aarskog-Scott syndrome (ASS) is a rare disorder with characteristic facial, skeletal, and genital abnormalities. Mutations in the FGD1 gene (Xp11.21) are responsible for ASS. However, mutation detection rates are low. Here, we report a family with ASS where conventional Sanger sequencing failed to detect a pathogenic change in FGD1. To identify the causative gene, we performed whole-exome sequencing in two...

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Source

Identifiers

PMID: 23169394
DOI: 10.1002/humu.22252

Genes

FGD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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