Unknown

Dataset Information

0

Recessive Mutations in AP1B1 Cause Ichthyosis, Deafness, and Photophobia.

ABSTRACT: We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the ? subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 ? subunit is lost, and the ? subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contain an abundance of abnormal vesicles and show hyperproliferation, abnormal epidermal differentiation, and derangement of intercellular junction proteins. Transduction of affected cells with wild-type AP1B1 rescues the vesicular phenotype, conclusively establishing that loss of AP1B1 function causes this disorder.

SUBMITTER: Boyden LM 

PROVIDER: S-EPMC6849088 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature

Json Xml
altmetric image

Publications

We describe unrelated individuals with ichthyosis, failure to thrive, thrombocytopenia, photophobia, and progressive hearing loss. Each have bi-allelic mutations in AP1B1, the gene encoding the β subunit of heterotetrameric adaptor protein 1 (AP-1) complexes, which mediate endomembrane polarization, sorting, and transport. In affected keratinocytes the AP-1 β subunit is lost, and the γ subunit is greatly reduced, demonstrating destabilization of the AP-1 complex. Affected cells and tissue contai  ...[more]

Similar Datasets

Unknown Mutations in SULT2B1 Cause Autosomal-Recessive Congenital Ichthyosis in Humans.
| S-EPMC5473727 | biostudies-other
Unknown Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.
| S-EPMC3675029 | biostudies-literature
Unknown Mutations of ESPN cause autosomal recessive deafness and vestibular dysfunction.
| S-EPMC1735855 | biostudies-other
Unknown Recessive mutations in ELOVL4 cause ichthyosis, intellectual disability, and spastic quadriplegia.
| S-EPMC3234380 | biostudies-literature
Unknown Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome.
| S-EPMC447609 | biostudies-literature
Unknown Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome.
| S-EPMC3127745 | biostudies-literature
Unknown Ichthyosis Follicularis, Alopecia, and Photophobia Syndrome.
| S-EPMC5551309 | biostudies-other
Unknown Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.
| S-EPMC5358661 | biostudies-literature
Unknown Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy.
| S-EPMC3309196 | biostudies-literature
Unknown Cx26 keratitis ichthyosis deafness syndrome mutations trigger alternative splicing of Cx26 to prevent expression and cause toxicity in vitro.
| S-EPMC6731697 | biostudies-literature