Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.

Journal of human genetics - 1 Aug 2026

Altıner Şule, Gökpınar İli Ezgi, Yurtdaş Ahmet Karer, Kurtçu Okan, Doğulu Neslihan, Öktem Ayşe, Köse Engin, Eminoğlu Fatma Tuba, Yıldırım Behiye Tuğçe, Aslanger Ayça Dilruba, Yeşil Sayın Gözde, Karabulut Halil Gürhan

Abstract excerpt

The syndrome known as KIDAR (keratitis, ichthyosis, deafness, autosomal recessive) is extremely rare. It is caused by biallelic mutations in AP1B1, encoding adaptor-related protein complex, beta-1 subunit. AP1 complex takes part in the formation of vesicles and the selection of cargo proteins in the trans-golgi network. It also contributes to vesicular transport of ATP7A and ATP7B. Accordingly, KIDAR has been...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Copper
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ichthyosis

Share to Mutation

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42032344
DOI: 10.1038/s10038-026-01476-9
PMCID: PMC13400296

Genes

AP1B1
ATP7A
ATP7B

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Further delineation of KIDAR syndrome: Two new cases with novel variants, functional analysis of the variants and a comprehensive review.PMID 42032344Read ↗

Clinical, biochemical and cell biological characterization of KIDAR syndrome associated with a novel AP1B1 variantSemantic proximity Read ↗

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

Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome.Semantic proximity Read ↗

Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.Semantic proximity Read ↗

A splice-site variant in ANKRD11 associated with classical KBG syndrome.Semantic proximity Read ↗

De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy.Semantic proximity Read ↗

KBG syndrome involving a single-nucleotide duplication in ANKRD11.Semantic proximity Read ↗

Exome sequencing revealed a novel biallelic deletion in the DCAF17 gene underlying Woodhouse Sakati syndrome.Semantic proximity Read ↗

Congenital ataxia due to novel variant in ATP8A2.Semantic proximity Read ↗

Kabuki Syndrome-Clinical Review with Molecular Aspects.Semantic proximity Read ↗

Okur-Chung neurodevelopmental syndrome: Eight additional cases with implications on phenotype and genotype expansion.Semantic proximity Read ↗

Clinical description, molecular delineation and genotype-phenotype correlation in 340 patients with KBG syndrome: Addition of 67 new patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.