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, Vol. 134, No. 1, 01.2015, p. 45-51.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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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 -