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Severe KIDAR syndrome caused by deletion in the AP1B1 gene: Report of a teenage patient and systematic review of the literature.

European journal of medical genetics - 1 Oct 2023

Vasconcelos Alice P, Nogueira Ana, Matos Pedro, Pinto Joel, Pinho Maria João, Fernandes Susana, Dória Sofia, Pinto Moura Carla

Abstract excerpt

Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR MIM #242150) is a very rare disorder caused by pathogenic loss-of-function variants in the AP1B1 gene. So far, nine patients have been reported in the literature and more clinical descriptions are essential to further delineate the phenotype of KIDAR. Here we report a new patient with KIDAR and compare the clinical findings with those from the...

Topics

Humans
Male
Adolescent
Ichthyosis
Phenotype
Adaptor Protein Complex beta Subunits
Hearing Loss, Sensorineural

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 37657632
DOI: 10.1016/j.ejmg.2023.104827

Genes

AP1B1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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