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:
CreatorsEmailORCIDORCID Put Code
Kakar, NaseebullahUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Ahmad, JamilUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Morris-Rosendahl, Deborah J.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Altmueller, JanineUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Friedrich, KatrinUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barbi, GottholdUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nuernberg, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Kubisch, ChristianUNSPECIFIEDorcid.org/0000-0003-4220-0978UNSPECIFIED
Dobyns, William B.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Borck, GuntramUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
SCL/TAL1 INTERRUPTING LOCUS; CELL-PROLIFERATION; GENE; SILMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/41899

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