Journal of Human Geneticsに論文がアクセプトされました。


国立病院機構東京医療センター 岩田 岳部長をはじめとする分子細胞生物学研究部の論文が、Journal of Human Geneticsにアクセプトされました。院長も共著者の一人で、この場をお借りして諸先生に心より御礼申し上げます。

LRRTM4-C538Y novel gene mutation is associated with hereditary macular degeneration with novel dysfunction of ON-type bipolar cells.


Kawamura Y1,2, Suga A1, Fujimaki T2, Yoshitake K1, Tsunoda K3, Murakami A2, Iwata T4.

The macula is a unique structure in higher primates, where cone and rod photoreceptors show highest density in the fovea and the surrounding area, respectively. The hereditary macular dystrophies represent a heterozygous group of rare disorders characterized by central visual loss and atrophy of the macula and surrounding retina. Here we report an atypical absence of ON-type bipolar cell response in a Japanese patient with autosomal dominant macular dystrophy (adMD). To identify a causal genetic mutation for the adMD, we performed whole-exome sequencing (WES) on four affected and four-non affected members of the family for three generations, and identified a novelp.C538Y mutation in a post-synaptic gene, LRRTM4. WES analysis revealed seven rare genetic variations in patients. We further referred to our in-house WES data from 1360 families with inherited retinal diseases, and found that only p.C538Y mutation in LRRTM4 was associated with adMD-affected patients. Combinatorial filtration using public database of single-nucleotide polymorphism frequency and genotype-phenotype annotated database identified novel mutation in atypical adMD.


J Hum Genet. 2018 May 14. doi: 10.1038/s10038-018-0465-4. [Epub ahead of print]