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.
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.
Authors: Rose Richardson; Jane Sowden; Christina Gerth-Kahlert; Anthony T Moore; Mariya Moosajee Journal: Eur J Hum Genet Date: 2017-01-18 Impact factor: 4.246
Authors: Fatema Zahrani; Mohammed A Aldahmesh; Muneera J Alshammari; Selwa A F Al-Hazzaa; Fowzan S Alkuraya Journal: Am J Hum Genet Date: 2013-02-28 Impact factor: 11.025
Authors: Shams Anazi; Sateesh Maddirevula; Vincenzo Salpietro; Yasmine T Asi; Saud Alsahli; Amal Alhashem; Hanan E Shamseldin; Fatema AlZahrani; Nisha Patel; Niema Ibrahim; Firdous M Abdulwahab; Mais Hashem; Nadia Alhashmi; Fathiya Al Murshedi; Adila Al Kindy; Ahmad Alshaer; Ahmed Rumayyan; Saeed Al Tala; Wesam Kurdi; Abdulaziz Alsaman; Ali Alasmari; Selina Banu; Tipu Sultan; Mohammed M Saleh; Hisham Alkuraya; Mustafa A Salih; Hesham Aldhalaan; Tawfeg Ben-Omran; Fatima Al Musafri; Rehab Ali; Jehan Suleiman; Brahim Tabarki; Ayman W El-Hattab; Caleb Bupp; Majid Alfadhel; Nada Al Tassan; Dorota Monies; Stefan T Arold; Mohamed Abouelhoda; Tammaryn Lashley; Henry Houlden; Eissa Faqeih; Fowzan S Alkuraya Journal: Hum Genet Date: 2017-09-22 Impact factor: 4.132