NC_000022.10:g.29758984_29815476del AND Autosomal recessive keratitis-ichthyosis-deafness syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 16, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000993589.1

Allele description [Variation Report for NC_000022.10:g.29758984_29815476del]

NC_000022.10:g.29758984_29815476del

Gene:
AP1B1:adaptor related protein complex 1 subunit beta 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.2
Preferred name:
NC_000022.10:g.29758984_29815476del
HGVS:
NC_000022.10:g.29758984_29815476del
Nucleotide change:
75-KB DEL, EX1-2DEL
Links:
OMIM: 600157.0001

Condition(s)

Name:
Autosomal recessive keratitis-ichthyosis-deafness syndrome (KIDAR)
Synonyms:
Ichthyosiform erythroderma, corneal involvement, deafness; KID syndrome, autosomal recessive; Desmons syndrome
Identifiers:
MONDO: MONDO:0009440; MedGen: C1275089; Orphanet: 477; OMIM: 242150

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001146680OMIMno assertion criteria providedPathogenic
(Jan 16, 2020)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Homozygous Loss-of-Function Mutations in AP1B1, Encoding Beta-1 Subunit of Adaptor-Related Protein Complex 1, Cause MEDNIK-like Syndrome.

Alsaif HS, Al-Owain M, Barrios-Llerena ME, Gosadi G, Binamer Y, Devadason D, Ravenscroft J, Suri M, Alkuraya FS.

Am J Hum Genet. 2019 Nov 7;105(5):1016-1022. doi: 10.1016/j.ajhg.2019.09.020. Epub 2019 Oct 17.

PubMed [citation]
PMID:
31630791
PMCID:
PMC6848991

Details of each submission

From OMIM, SCV001146680.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4.3-year-old girl of Pakistani origin and her 1.5-year-old brother (patients 1 and 2) with ichthyotic erythroderma, profound sensorineural deafness, and ectropion (KIDAR; 242150), Alsaif et al. (2019) identified homozygosity for a 75-kb deletion (chr22.29,758,984-29,815,476, GRCh37) that removes a putative promoter as well as the first 2 exons of AP1B1. Their unaffected second-cousin parents were heterozygous for the deletion. RT-PCR of patient fibroblasts showed complete absence of AP1B1 transcript. Both sibs had low plasma copper and ceruloplasmin levels, and analysis of patient dermal fibroblasts showed dramatic perturbation of trafficking of a key copper transporter, ATP7A (300011), which showed random colocalization with the trans-Golgi network compared to the nearly perfect colocalization seen in controls. In addition, proteomic analysis of clathrin (see 118955)-coated vesicles showed that AP1B1 was the only component consistently reduced in patient fibroblasts compared to controls, suggesting that AP1B1 deficiency results in a specific defect in CCVs.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 20, 2020

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