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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

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STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. / Kakar, Naseebullah; Ahmad, Jamil; Morris-Rosendahl, Deborah J; Altmüller, Janine; Friedrich, Katrin; Barbi, Gotthold; Nürnberg, Peter; Kubisch, Christian; Dobyns, William B; Borck, Guntram.

in: HUM GENET, Jahrgang 134, Nr. 1, 01.2015, S. 45-51.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kakar, N, Ahmad, J, Morris-Rosendahl, DJ, Altmüller, J, Friedrich, K, Barbi, G, Nürnberg, P, Kubisch, C, Dobyns, WB & Borck, G 2015, 'STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly', HUM GENET, Jg. 134, Nr. 1, S. 45-51. https://doi.org/10.1007/s00439-014-1487-4

APA

Kakar, N., Ahmad, J., Morris-Rosendahl, D. J., Altmüller, J., Friedrich, K., Barbi, G., Nürnberg, P., Kubisch, C., Dobyns, W. B., & Borck, G. (2015). STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. HUM GENET, 134(1), 45-51. https://doi.org/10.1007/s00439-014-1487-4

Vancouver

Kakar N, Ahmad J, Morris-Rosendahl DJ, Altmüller J, Friedrich K, Barbi G et al. STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly. HUM GENET. 2015 Jan;134(1):45-51. https://doi.org/10.1007/s00439-014-1487-4

Bibtex

@article{e9349ccebe134f1f942fb78f435aad52,
title = "STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly",
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 = "Adolescent, Adult, Child, Preschool, Consanguinity, Female, Holoprosencephaly, Humans, Infant, Intracellular Signaling Peptides and Proteins, Male, Microcephaly, Mutation, Pakistan, Young Adult",
author = "Naseebullah Kakar and Jamil Ahmad and Morris-Rosendahl, {Deborah J} and Janine Altm{\"u}ller and Katrin Friedrich and Gotthold Barbi and Peter N{\"u}rnberg and Christian Kubisch and Dobyns, {William B} and Guntram Borck",
year = "2015",
month = jan,
doi = "10.1007/s00439-014-1487-4",
language = "English",
volume = "134",
pages = "45--51",
journal = "HUM GENET",
issn = "0340-6717",
publisher = "Springer",
number = "1",

}

RIS

TY - JOUR

T1 - STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly

AU - Kakar, Naseebullah

AU - Ahmad, Jamil

AU - Morris-Rosendahl, Deborah J

AU - Altmüller, Janine

AU - Friedrich, Katrin

AU - Barbi, Gotthold

AU - Nürnberg, Peter

AU - Kubisch, Christian

AU - Dobyns, William B

AU - Borck, Guntram

PY - 2015/1

Y1 - 2015/1

N2 - 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.

AB - 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.

KW - Adolescent

KW - Adult

KW - Child, Preschool

KW - Consanguinity

KW - Female

KW - Holoprosencephaly

KW - Humans

KW - Infant

KW - Intracellular Signaling Peptides and Proteins

KW - Male

KW - Microcephaly

KW - Mutation

KW - Pakistan

KW - Young Adult

U2 - 10.1007/s00439-014-1487-4

DO - 10.1007/s00439-014-1487-4

M3 - SCORING: Journal article

C2 - 25218063

VL - 134

SP - 45

EP - 51

JO - HUM GENET

JF - HUM GENET

SN - 0340-6717

IS - 1

ER -