PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

A Malandrini; F Mari; S Palmeri; S Gambelli; G Berti; M Bruttini; A M Bardelli; K Williamson; V van Heyningen; A Renieri

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

A Malandrini, F Mari, S Palmeri, S Gambelli, G Berti, M Bruttini, A M Bardelli, K Williamson, V van Heyningen, A Renieri

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

Abstract / Description of output

Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.

Original language	English
Pages (from-to)	151-4
Number of pages	4
Journal	Clinical genetics
Volume	60
Issue number	2
Publication status	Published - Aug 2001

Keywords / Materials (for Non-textual outputs)

Abnormalities, Multiple/genetics
Adolescent
Adult
Aniridia/pathology
Blepharoptosis/pathology
DNA/chemistry
DNA Mutational Analysis
Eye Proteins
Family Health
Female
Homeodomain Proteins/genetics
Humans
Intellectual Disability/pathology
Male
Middle Aged
Mutation
Mutation, Missense
PAX6 Transcription Factor
Paired Box Transcription Factors
Pedigree
Polymorphism, Single-Stranded Conformational
Repressor Proteins

Cite this

@article{1a13ea8a31704c06b6efbbbe0e4de0a0,

title = "PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation",

abstract = "Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.",

keywords = "Abnormalities, Multiple/genetics, Adolescent, Adult, Aniridia/pathology, Blepharoptosis/pathology, DNA/chemistry, DNA Mutational Analysis, Eye Proteins, Family Health, Female, Homeodomain Proteins/genetics, Humans, Intellectual Disability/pathology, Male, Middle Aged, Mutation, Mutation, Missense, PAX6 Transcription Factor, Paired Box Transcription Factors, Pedigree, Polymorphism, Single-Stranded Conformational, Repressor Proteins",

author = "A Malandrini and F Mari and S Palmeri and S Gambelli and G Berti and M Bruttini and Bardelli, {A M} and K Williamson and {van Heyningen}, V and A Renieri",

year = "2001",

month = aug,

language = "English",

volume = "60",

pages = "151--4",

journal = "Clinical genetics",

issn = "0009-9163",

publisher = "Wiley-Blackwell",

number = "2",

}

TY - JOUR

T1 - PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

AU - Malandrini, A

AU - Mari, F

AU - Palmeri, S

AU - Gambelli, S

AU - Berti, G

AU - Bruttini, M

AU - Bardelli, A M

AU - Williamson, K

AU - van Heyningen, V

AU - Renieri, A

PY - 2001/8

Y1 - 2001/8

N2 - Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.

AB - Congenital aniridia is due to deletions and point mutations in the PAX6 gene. We describe here a case of a mother and her two sons with a syndrome comprising congenital aniridia, ptosis, and slight mental retardation. The sons also show behavioral changes. The possibility of deletion around the PAX6 locus was excluded by polymorphism studies and fluorescence in situ hybridization analysis. Mutation screening of the PAX6 gene revealed the presence of a transversion C719A, resulting in the substitution of arginine for serine at residue 119. We suggest that this missense mutation is responsible both for aniridia and ptosis, and possibly also for the observed cognitive dysfunction in this family.

KW - Abnormalities, Multiple/genetics

KW - Adolescent

KW - Adult

KW - Aniridia/pathology

KW - Blepharoptosis/pathology

KW - DNA/chemistry

KW - DNA Mutational Analysis

KW - Eye Proteins

KW - Family Health

KW - Female

KW - Homeodomain Proteins/genetics

KW - Humans

KW - Intellectual Disability/pathology

KW - Male

KW - Middle Aged

KW - Mutation

KW - Mutation, Missense

KW - PAX6 Transcription Factor

KW - Paired Box Transcription Factors

KW - Pedigree

KW - Polymorphism, Single-Stranded Conformational

KW - Repressor Proteins

M3 - Article

C2 - 11553050

SN - 0009-9163

VL - 60

SP - 151

EP - 154

JO - Clinical genetics

JF - Clinical genetics

IS - 2

ER -

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

Abstract / Description of output

Keywords / Materials (for Non-textual outputs)

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Cite this