Article
Next generation sequencing identifies mutations in Atonal homolog 7 (ATOH7) in families with global eye developmental defects.
Human molecular genetics - 15 Feb 2012
Khan Kamron, Logan Clare V, McKibbin Martin, Sheridan Eamonn, Elçioglu Nursel H, Yenice Ozlem, Parry David A, Fernandez-Fuentes Narcis, Abdelhamed Zakia I A, Al-Maskari Ahmed, Poulter James A, Mohamed Moin D, Carr Ian M, Morgan Joanne E, Jafri Hussain, Raashid Yasmin, Taylor Graham R, Johnson Colin A, Inglehearn Chris F, Toomes Carmel, Ali Manir
Abstract excerpt
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.