Lethal neonatal respiratory failure due to biallelic variants in BBS1 and monoallelic variant in TTC21B.

ABSTRACT:

Background

Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy characterized by early onset retinal dystrophy, renal anomalies, postaxial polydactyly, and cognitive impairment with considerable phenotypic heterogeneity. BBS results from biallelic pathogenic variants in over 20 genes that encode key proteins required for the assembly or primary ciliary functions of the BBSome, a heterooctameric protein complex critical for homeostasis of primary cilia. While variants in BBS1 are most frequently identified in affected individuals, the renal and pulmonary phenotypes associated with BBS1 variants are reportedly less severe than those seen in affected individuals with pathogenic variants in the other BBS-associated genes.

Case-diagnosis

We report an infant with

SUBMITTER: Viehl L 

PROVIDER: S-EPMC9744956 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature