Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene

Morohashi, Tamaki; Hayashi, Takaaki; Mizobuchi, Kei; Nakano, Tadashi; Morioka, Ichiro

doi:10.1007/s10633-022-09915-6

Cited by 2 publications

(1 citation statement)

References 16 publications

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“…In one of the families, in which five patients were affected, variability was observed not only in the overall clinical phenotype but also in the type of renal disease ( 16 ). Furthermore, after reviewing the literature, it was observed that a mutation in the BBS12 gene can be presented with a different constellation of symptoms characteristic of BBS ( 17 – 19 ). According to the available literature, patients with this mutation can have higher cardiovascular risks than those with mutation in BBS1 gene, since patients with mutations in BBS1 gene show low frequency of renal anomalies (potential cause of arterial hypertension) and generally present with milder phenotype while patients with mutations in BBS12 often present with obesity (associated with hyperlipidemia and glucose intolerance) ( 3 , 5 ).…”

Section: Discussionmentioning

confidence: 99%

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

et al. 2023

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IntroductionBardet-Biedl syndrome (BBS) is a rare genetic syndrome caused by a mutation in one of 26 different genes responsible for normal structure and/or function of primary cilia. The syndrome is characterized by multiorgan involvement with gradual onset of occurrence of clinical signs and symptoms resulting in great phenotypic variability and what is more important, often difficulties with establishing the timely diagnosis.Case reportWe report a case of a one family with three members with BBS caused by a very rare mutation, a compound heterozygosity in BB12 gene. Even though all three patients have the same type of mutation, they express a significant diversity in clinical expression as well as renal impairment.ConclusionThis is a case report of a rare clinical syndrome caused by a very rare genetic mutation and it emphasizes the importance of genetic analysis in the timely diagnosis of oligosymptomatic patients with BBS, in order to possibly prevent long-term complications.

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Section: Discussionmentioning

confidence: 99%

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

et al. 2023

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A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan

Higa,

Hayashi,

Mizobuchi

et al. 2024

Front. Med.

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IntroductionIn Japan, inherited retinal dystrophy caused by biallelic variants of the RPE65 gene is exceedingly rare. The purpose of this study was to describe a Japanese male patient with a novel variant in RPE65 associated with Leber congenital amaurosis (LCA).Case reportThe patient, diagnosed with LCA, exhibited infantile nystagmus and reported experiencing night blindness since early childhood. At 27 years of age, the patient underwent an ophthalmologically evaluation. Corrected visual acuity was Snellen equivalent 20/133 in the right eye and Snellen equivalent 20/100 in the left eye. Fundus examination revealed alterations in the retinal pigment epithelium characterized by hypopigmentation and narrowing of retinal vessels. Fundus autofluorescence imaging demonstrated a generally diminished autofluorescent signal. Full-field electroretinography identified a generalized dysfunction of both rod and cone systems in each eye. Whole exome sequencing identified a novel missense variant in RPE65 (NM_000329.3): c.1172C > A p.(Ala391Asp), which was classified as pathogenic, as well as a recurrent variant p.(Arg515Trp).ConclusionThis study provides valuable insights into the genotype–phenotype correlation of RPE65-associated LCA in Japanese patients, with critical implications for enhanced diagnostic accuracy and informed therapeutic decisions.

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Bardet–Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene

Cited by 2 publications

References 16 publications

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

Bardet-Biedl syndrome caused by compound heterozygosity in BBS12 gene: a case report of one family with three affected members

A novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan

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