更新于：2024-11-01

Bardet-Biedl Syndrome 1

1型巴德-毕德氏症候群

更新于：2024-11-01

基本信息

别名

BARDET-BIEDL SYNDROME 1、BBS1、Bardet-Biedl syndrome 1

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简介-

关联

项与 1型巴德-毕德氏症候群相关的药物

AXV-102

靶点-

作用机制-

在研机构

Axovia Therapeutics, Inc.

原研机构

Axovia Therapeutics, Inc.

在研适应症

1型巴德-毕德氏症候群

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 1型巴德-毕德氏症候群相关的临床结果

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100 项与 1型巴德-毕德氏症候群相关的转化医学

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0 项与 1型巴德-毕德氏症候群相关的专利（医药）

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项与 1型巴德-毕德氏症候群相关的文献（医药）

2023-03-01·European Journal of Human Genetics

High molecular diagnostic yields and novel phenotypic expansions involving syndromic anorectal malformations

Article

作者: Scott, Daryl A ; Zhao, Xiaonan ; Rosenfeld, Jill A ; Belanger Deloge, Raymond ; Shaw, Chad A ; Luna, Pamela N

Evidence suggests that genetic factors contribute to the development of anorectal malformations (ARMs). However, the etiology of the majority of ARMs cases remains unclear. Exome sequencing (ES) may be underutilized in the diagnostic workup of ARMs due to uncertainty regarding its diagnostic yield. In a clinical database of ~17,000 individuals referred for ES, we identified 130 individuals with syndromic ARMs. A definitive or probable diagnosis was made in 45 of these individuals for a diagnostic yield of 34.6% (45/130). The molecular diagnostic yield of individuals who initially met criteria for VACTERL association was lower than those who did not (26.8% vs 44.1%; p = 0.0437), suggesting that non-genetic factors may play an important role in this subset of syndromic ARM cases. Within this cohort, we identified two individuals who carried de novo pathogenic frameshift variants in ADNP, two individuals who were homozygous for pathogenic variants in BBS1, and single individuals who carried pathogenic or likely pathogenic variants in CREBBP, EP300, FANCC, KDM6A, SETD2, and SMARCA4. The association of these genes with ARMs was supported by previously published cases, and their similarity to known ARM genes as demonstrated using a machine learning algorithm. These data suggest that ES should be considered for all individuals with syndromic ARMs in whom a molecular diagnosis has not been made, and that ARMs represent a low penetrance phenotype associated with Helsmoortel-van der Aa syndrome, Bardet-Biedl syndrome 1, Rubinstein-Taybi syndromes 1 and 2, Fanconi anemia group C, Kabuki syndrome 2, SETD2-related disorders, and Coffin-Siris syndrome 4.

2021-09-01·Puerto Rico health sciences journal

Compound Heterozygous Mutations in the BBS-1 Gene and its Clinical Presentation: A Case Report.

作者: Izquierdo, Natalio J ; Guardiola-Dávila, Gabriel ; Michelen-Gómez, Eduardo

Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS). There is limited evidence suggesting that some compound heterozygotes can present with milder phenotypic characteristics than homozygotes. We report on the clinical characteristics of a 22-year-old Puerto Rican male who was compound heterozygous for the Bardet-Biedl syndrome type 1. Our patient had deteriorating visual acuity since early childhood. Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic complications commonly observed in patients with the BBS were present. Allele-specific testing and DNA sequencing revealed compound heterozygous mutations (M390R and E549X) in the BBS1 gene. Our findings could suggest that patients who are compound heterozygotes for these specific BBS mutations can exhibit milder clinical signs than homozygous patients.

2020-12-01·American Journal of Ophthalmology Case Reports

Clinical characteristics and ultra-widefield fundus image analysis of two siblings with Bardet-Biedl syndrome type 1 p.Met390Arg variant

作者: Muns, Sofia M ; Oliver, Armando L ; Montalvo, Lorena A ; Martinez, Meliza ; Vargas Del Valle, Jose G ; Izquierdo, Natalio J

PURPOSETo present the case of two siblings with a genetic diagnosis of Bardet Biedl syndrome (BBS) type 1, yet different clinical profiles and disease manifestations.OBSERVATIONSSequencing analysis revealed a p.Met390Arg pathogenic variant in the BBS1 gene of both patients, as well as several additional variants of uncertain significance Patient 1 was 41 years old, had three primary (cone-rod dystrophy, hypogonadism, and truncal obesity) and three secondary (arterial hypertension, strabismus, and astigmatism) BBS features. He also had insulin resistance, as well as low levels of total testosterone and cortisol. Patient 2 was 43 years old, had two primary (cone-rod dystrophy and truncal obesity), and four secondary (arterial hypertension, diabetes mellitus, strabismus, and astigmatism) BBS features. Both patients had severe maculopathy; however, patient 1 had bone-spicules that extended up to the mid-periphery, in a perivenular pattern, and significant vascular attenuation with "ghost vessel" appearance towards the temporal periphery, a feature that was absent on patient 2.CONCLUSIONS AND IMPORTANCEThe intrafamilial phenotypic variability among our patients supports the hypothesis that BBS is a disease with genetic, hormonal, and environmental triggers interacting to produce phenotypic variability. Although our report may not establish a definite relationship between environmental and genetic influences, their role should be explored in future studies.