Acquired Microcephaly in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Because of an Interstitial 3q22.3q23 Deletion

Abstract Background Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. Microcephaly is not associated with FOXL2 mutations but has been reported in individuals with chromosome 3q deletions, which include the FO...

Full description

Saved in:
Bibliographic Details
Published in:Pediatric neurology 2014-06, Vol.50 (6), p.636-639
Main Authors: Dean, Sarah J., MD, Holden, Kenton R., MD, Dwivedi, Alka, PhD, Dupont, Barbara R., PhD, Lyons, Michael J., MD
Format: Article
Language:English
Subjects:
Blepharophimosis - genetics
Blepharophimosis - pathology
blepharophimosis-ptosis-epicanthus inversus
Child
Chromosome Deletion
Chromosomes, Human, Pair 3
Class I Phosphatidylinositol 3-Kinases
deletion
Female
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability - genetics
Intellectual Disability - pathology
Microarray Analysis
microcephaly
Microcephaly - genetics
Microcephaly - pathology
Neurology
Pediatrics
Phosphatidylinositol 3-Kinases - genetics
PIK3CB
Skin Abnormalities - genetics
Skin Abnormalities - pathology
Urogenital Abnormalities
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Abstract Background Blepharophimosis-ptosis-epicanthus inversus syndrome is an autosomal dominant condition because of mutations or deletions of the FOXL2 gene. Microcephaly is not associated with FOXL2 mutations but has been reported in individuals with chromosome 3q deletions, which include the FOXL2 gene and other contiguous genes. The ATR gene has been reported as a candidate gene for microcephaly in individuals with contiguous deletion of chromosome 3q involving the FOXL2 gene. Patient We describe a girl with blepharophimosis-ptosis-epicanthus inversus syndrome along with acquired microcephaly and intellectual disability. Results Our patient had a deletion of chromosome 3q22.2q23, which does not include the ATR gene but does include the PIK3CB gene as a candidate gene for microcephaly. Conclusion We propose that the PIK3CB gene included in our patient's chromosome 3q deletion may be the gene responsible for microcephaly and other patients with blepharophimosis-ptosis-epicanthus inversus syndrome because of a chromosome 3q deletion.
ISSN:0887-8994
1873-5150
DOI:10.1016/j.pediatrneurol.2014.01.055