Universität zu Köln

Kakar, Naseebullah, Ahmad, Jamil, Morris-Rosendahl, Deborah J., Altmueller, Janine, Friedrich, Katrin, Barbi, Gotthold, Nuernberg, Peter, Kubisch, Christian ORCID: 0000-0003-4220-0978, Dobyns, William B. and Borck, Guntram (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. Hum. Genet., 134 (1). S. 45 - 52. NEW YORK: SPRINGER. ISSN 1432-1203

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Kakar, Naseebullah UNSPECIFIED UNSPECIFIED UNSPECIFIED Ahmad, Jamil UNSPECIFIED UNSPECIFIED UNSPECIFIED Morris-Rosendahl, Deborah J. UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Friedrich, Katrin UNSPECIFIED UNSPECIFIED UNSPECIFIED Barbi, Gotthold UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Kubisch, Christian UNSPECIFIED orcid.org/0000-0003-4220-0978 UNSPECIFIED Dobyns, William B. UNSPECIFIED UNSPECIFIED UNSPECIFIED Borck, Guntram UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-418991
DOI:	10.1007/s00439-014-1487-4
Journal or Publication Title:	Hum. Genet.
Volume:	134
Number:	1
Page Range:	S. 45 - 52
Date:	2015
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-1203
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SCL/TAL1 INTERRUPTING LOCUS; CELL-PROLIFERATION; GENE; SIL Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/41899