Beunders Gea, de Munnik Sonja A, Van der Aa Nathalie, Ceulemans Berten, Voorhoeve Els, Groffen Alexander J, Nillesen Willy M, Meijers-Heijboer Elizabeth J, Frank Kooy R, Yntema Helger G, Sistermans Erik A
Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands.
Eur J Hum Genet. 2015 Jun;23(6):803-7. doi: 10.1038/ejhg.2014.173. Epub 2014 Sep 10.
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.
AUTS2综合征的特征包括低出生体重、喂养困难、智力残疾、小头畸形和轻度畸形特征。迄今为止，所有受影响个体均由染色体重排引起，尚未发现破坏AUTS2的碱基对水平变体。在此，我们展示了两名患有AUTS2基因内变体（一名外显子7中两个碱基对缺失，一名外显子6缺失）的受影响男性的完整临床描述。这两种变体均为新发，预计会导致全长转录本移码，但不太可能影响从外显子9开始的较短3'转录本。两名男性的表型之间的相似性非常显著，进一步支持AUTS2综合征是一种单基因疾病。
