A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

Shigeru Sato; Takeshi Morimoto; Kikuko Hotta; Takashi Fujikado; Kohji Nishida

doi:10.1038/s41439-019-0045-y

A novel compound heterozygous mutation in TTC8 identified in a Japanese patient

Hum Genome Var. 2019 Mar 12:6:14. doi: 10.1038/s41439-019-0045-y. eCollection 2019.

Authors

Shigeru Sato¹, Takeshi Morimoto^{1

2}, Kikuko Hotta³, Takashi Fujikado^{1

2}, Kohji Nishida¹

Affiliations

¹ 1Department of Ophthalmology, Osaka University Graduate School of Medicine, Osaka, Japan.
² 2Department of Applied Visual Science, Osaka University Graduate School of Medicine, Osaka, Japan.
³ 3Department of Medical Innovation, Osaka University Hospital, Osaka, Japan.

Abstract

Bardet-Biedl syndrome (BBS), characterized by rod-cone dystrophy, postaxial polydactyly, central obesity, hypogonadism, renal abnormalities, and mental retardation, is a rare autosomal recessive disorder. To date, 21 causative genes have been reported. Here we describe a Japanese BBS patient with a novel compound heterozygous mutation in TTC8. To the best of our knowledge, this is the first description of a BBS patient with a mutation in the TTC8 gene in Japan.

Publication types

Case Reports