The First Nationwide Survey and Genetic Analyses of Bardet-Biedl Syndrome in Japan

PloS One
Makito HiranoTatsushi Toda

Abstract

Bardet-Biedl syndrome (BBS) is an autosomal recessive disorder characterized by central obesity, mental impairment, rod-cone dystrophy, polydactyly, hypogonadism in males, and renal abnormalities. The causative genes have been identified as BBS1-19. In Western countries, this disease is often reported, but remains undiagnosed in many patients until later in life, while only a few patients with no mutations identified have been reported in Japan. We thus conducted the first nationwide survey of BBS in Japan by sending questionnaires to 2,166 clinical departments with board-certified specialists and found 7 patients with clinically definite BBS. We performed exome analyses combined with analyses of mRNA and protein in these patients. We identified 2 novel mutations in the BBS5 gene (p.R89X and IVS7-27 T>G) in 2 sibling patients. The latter mutation that resided far from the authentic splicing site was associated with skipping of exon 8. We also found 3 previously reported mutations in the BBS2 (p.R413X and p.R480X) and BBS7 (p.C243Y) genes in 2 patients. To our knowledge, a nationwide survey of BBS has not been reported in any other country. In addition, this is the first study to identify genetic alterations in Japanese patients...Continue Reading

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Citations

Apr 19, 2018·Japanese Journal of Ophthalmology·Kentaro KurataYoshihiro Hotta
May 27, 2020·Journal of Human Genetics·Makito HiranoTatsushi Toda
Mar 20, 2019·Human Genome Variation·Shigeru SatoKohji Nishida
Jan 31, 2020·Documenta Ophthalmologica. Advances in Ophthalmology·Satoshi KatagiriYoshihiro Hotta
Nov 3, 2020·Internal Medicine·Kentaro HoriuchiKatsutoshi Tokushige
Mar 7, 2019·Journal of the Chinese Medical Association : JCMA·Tao ShenXin-Min Yan
Jul 16, 2021·International Medical Case Reports Journal·Gabriel GuardiolaNatalio Izquierdo

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Methods Mentioned

BETA
chip
exome sequencing

Software Mentioned

CRIBBS
Genome Analysis Toolkit ( GATK )

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