STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

Naseebullah Kakar, Jamil Ahmad, Deborah J. Morris-Rosendahl, Janine Altmüller, Katrin Friedrich, Gotthold Barbi, Peter Nürnberg, Christian Kubisch, William B. Dobyns, Guntram Borck

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


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 languageEnglish (US)
Pages (from-to)45-51
Number of pages7
JournalHuman Genetics
Issue number1
StatePublished - Jan 2014
Externally publishedYes

Bibliographical note

Funding Information:
We thank the family members for their participation in the study. N. K. was supported by the International Graduate School in Molecular Medicine Ulm.

Publisher Copyright:
© 2014, Springer-Verlag Berlin Heidelberg.


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