PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

S M Sisodiya; S L Free; K A Williamson; T N Mitchell; C Willis; J M Stevens; B E Kendall; S D Shorvon; I M Hanson; A T Moore; V van Heyningen

doi:10.1038/90042

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

S M Sisodiya, S L Free, K A Williamson, T N Mitchell, C Willis, J M Stevens, B E Kendall, S D Shorvon, I M Hanson, A T Moore, V van Heyningen

Research output: Contribution to journal › Article › peer-review

Abstract / Description of output

PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.

Original language	English
Pages (from-to)	214-6
Number of pages	3
Journal	Nature Genetics
Volume	28
Issue number	3
DOIs	https://doi.org/10.1038/90042
Publication status	Published - Jul 2001

Keywords / Materials (for Non-textual outputs)

Adult
Aniridia
Eye Proteins
Female
Homeodomain Proteins
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Nervous System Malformations
Olfaction Disorders
Paired Box Transcription Factors
Repressor Proteins
Telencephalon

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10.1038/90042

http://www.nature.com/ng/journal/v28/n3/full/ng0701_214.html

Cite this

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title = "PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans",

abstract = "PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.",

keywords = "Adult, Aniridia, Eye Proteins, Female, Homeodomain Proteins, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Nervous System Malformations, Olfaction Disorders, Paired Box Transcription Factors, Repressor Proteins, Telencephalon",

author = "Sisodiya, {S M} and Free, {S L} and Williamson, {K A} and Mitchell, {T N} and C Willis and Stevens, {J M} and Kendall, {B E} and Shorvon, {S D} and Hanson, {I M} and Moore, {A T} and {van Heyningen}, V",

year = "2001",

month = jul,

doi = "10.1038/90042",

language = "English",

volume = "28",

pages = "214--6",

journal = "Nature Genetics",

issn = "1061-4036",

publisher = "Nature Publishing Group",

number = "3",

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T1 - PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

AU - Sisodiya, S M

AU - Free, S L

AU - Williamson, K A

AU - Mitchell, T N

AU - Willis, C

AU - Stevens, J M

AU - Kendall, B E

AU - Shorvon, S D

AU - Hanson, I M

AU - Moore, A T

AU - van Heyningen, V

PY - 2001/7

Y1 - 2001/7

N2 - PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.

AB - PAX6 is widely expressed in the central nervous system. Heterozygous PAX6 mutations in human aniridia cause defects that would seem to be confined to the eye. Magnetic resonance imaging (MRI) and smell testing reveal the absence or hypoplasia of the anterior commissure and reduced olfaction in a large proportion of aniridia cases, which shows that PAX6 haploinsuffiency causes more widespread human neuro developmental anomalies.

KW - Adult

KW - Aniridia

KW - Eye Proteins

KW - Female

KW - Homeodomain Proteins

KW - Humans

KW - Magnetic Resonance Imaging

KW - Male

KW - Middle Aged

KW - Nervous System Malformations

KW - Olfaction Disorders

KW - Paired Box Transcription Factors

KW - Repressor Proteins

KW - Telencephalon

U2 - 10.1038/90042

DO - 10.1038/90042

M3 - Article

C2 - 11431688

SN - 1061-4036

VL - 28

SP - 214

EP - 216

JO - Nature Genetics

JF - Nature Genetics

IS - 3

ER -

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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