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Peroxisome biogenesis disorder 14B is an autosomal recessive disorder caused by biallelic mutations in peroxin genes. In a single family, whole exome sequencing identified a homozygous nonsense variant, c.277C>T (p.Arg93Ter), in PEX11B in 2 siblings (PMID:31724321). The variant segregated in the patient’s brother, both inheriting the allele from heterozygous parents, supporting autosomal recessive inheritance and complete penetrance in this pedigree (PMID:31724321). Clinically, affected individuals presented with congenital developmental cataracts (HP:0000519), mild intellectual disability (HP:0001256), progressive hearing impairment (HP:0001730), and polyneuropathy (HP:0001271).
Given evidence from a single sibship without functional assays or additional unrelated cases, the gene–disease association remains at a Limited level. While the LoF mechanism (haploinsufficiency) is plausible for peroxisome biogenesis defects, no cellular or animal model data have been reported to date. Additional unrelated probands and experimental validation are needed to elevate clinical validity. Key Take-home: Biallelic PEX11B LoF variants underlie PBD14B in a consanguineous family, guiding molecular diagnosis in similar phenotypes.
Gene–Disease AssociationLimitedOne family with 2 affected siblings; single pedigree segregation; no replication in unrelated cases Genetic EvidenceLimitedBiallelic LoF variant in PEX11B identified in 2 siblings; segregation in one additional relative Functional EvidenceLimitedNo functional or model organism data available |