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.
Original language | English (US) |
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Pages (from-to) | 45-51 |
Number of pages | 7 |
Journal | Human Genetics |
Volume | 134 |
Issue number | 1 |
DOIs | |
State | Published - Jan 2014 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2014, Springer-Verlag Berlin Heidelberg.