Homozygous null mutation in ODZ3 causes microphthalmia in humans
Aldahmesh, MA [ 1 ]; Mohammed, JY [ 1 ]; Al-Hazzaa, S [ 2 ]; Alkuraya, FS [ 1,3,4,5 ]
GENETICS IN MEDICINE
Volume: 14, Issue: 11, Pages: 900-904, DOI: 10.1038/gim.2012.71, Published: NOV
2012
Publisher NATURE PUBLISHING GROUP, 75 VARICK ST, 9TH FLR, NEW YORK, NY
10013-1917 USA
ISSN: 1098-3600
Abstract
Purpose: Microphthalmia is a condition in which eyes are small in size, often associated
with coloboma, as a result of aberrant eye development. Isolated microphthalmia is a
model disease for studying early development of the human eye, and mutations in
several key genes related to eye development have been linked to this phenotype.
Methods: In our search for novel genes that cause autosomal recessive microphthalmia
when mutated, we enrolled a family that consists of third-cousin parents and two children
with isolated colobomatous microphthalmia.
Results: Exome and autozygome analysis identified a null mutation in ODZ3, one of four
vertebrate orthologs of odz in Drosophila.
Conclusion: Our data highlight a role for ODZ3 in the early development of the human
eye.
Keywords
Author Keywords:autozygosity mapping; colobomatous microphthalmia; TEN-M3;
Teneurin-3
KeyWords Plus:PAIR-RULE GENE; VERTEBRATE EYE DEVELOPMENT; HOMEOBOX
GENE; DROSOPHILA; ANOPHTHALMIA; FAMILY
Author Information
Reprint Address: Alkuraya, FS E-mail Addresses:falkuraya@kfshrc.edu.sa
King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia.
Organization-Enhanced Name(s)
King Faisal Specialist Hospital & Research Center
King Faisal Specialist Hospital & Research Center - Riyadh
Addresses:
[ 1 ] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia
Organization-Enhanced Name(s)
King Faisal Specialist Hospital & Research Center
King Faisal Specialist Hospital & Research Center - Riyadh
[ 2 ] King Faisal Specialist Hosp & Res Ctr, Dept Surg, Riyadh 11211, Saudi Arabia
Organization-Enhanced Name(s)
King Faisal Specialist Hospital & Research Center
King Faisal Specialist Hospital & Research Center - Riyadh
[ 3 ] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
Alfaisal University
[ 4 ] King Saud Univ, Dept Pediat, King Khalid Univ Hosp, Riyadh, Saudi Arabia
Organization-Enhanced Name(s)
King Khalid University Hospital
King Saud University
[ 5 ] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia
Organization-Enhanced Name(s)
King Saud University