STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Item Type:	Article
Title:	STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly
Creators Name:	Kakar, N. and Ahmad, J. and Morris-Rosendahl, D.J. and Altmüller, J. and Friedrich, K. and Barbi, G. and Nürnberg, P. and Kubisch, C. and Dobyns, W.B. and Borck, G.
Abstract:	Holoprosencephaly is a clinically and genetically heterogeneous midline brain malformation associated with neurologic manifestations including developmental delay, intellectual disability and seizures. Although mutations in the sonic hedgehog gene SHH and more than 10 other genes are known to cause holoprosencephaly, many patients remain without a molecular diagnosis. Here we show that a homozygous truncating mutation of STIL not only causes severe autosomal recessive microcephaly, but also lobar holoprosencephaly in an extended consanguineous Pakistani family. STIL mutations have previously been linked to centrosomal defects in primary microcephaly at the MCPH7 locus. Our results thus expand the clinical phenotypes associated with biallellic STIL mutations to include holoprosencephaly.
Keywords:	Intellectual Disability, Exome Sequencing, Microcephaly, Holoprosencephaly, Short Tandem Repeat Marker
Source:	Human Genetics
ISSN:	0340-6717
Publisher:	Springer
Volume:	134
Number:	1
Page Range:	45-51
Date:	January 2015
Official Publication:	https://doi.org/10.1007/s00439-014-1487-4
PubMed:	View item in PubMed

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