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Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10.

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.

Author information

1
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
2
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
3
Department of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
4
Department of Neurology-Paediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.

Abstract

AUTS2 syndrome is characterized by low birth weight, feeding difficulties, intellectual disability, microcephaly and mild dysmorphic features. All affected individuals thus far were caused by chromosomal rearrangements, variants at the base pair level disrupting AUTS2 have not yet been described. Here we present the full clinical description of two affected men with intragenic AUTS2 variants (one two-base pair deletion in exon 7 and one deletion of exon 6). Both variants are de novo and are predicted to cause a frameshift of the full-length transcript but are unlikely to affect the shorter 3' transcript starting in exon 9. The similarities between the phenotypes of both men are striking and further support that AUTS2 syndrome is a single gene disorder.

PMID:
25205402
PMCID:
PMC4795056
DOI:
10.1038/ejhg.2014.173
[Indexed for MEDLINE]
Free PMC Article

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