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- Title
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome.
- Authors
Vornweg, J.; Gläser, S.; Ahmad‐Anwar, M.; Zimmer, A.D.; Kuhn, M.; Hörer, S.; Korenke, G.C.; Grothaus, J.; Ott, H.; Fischer, J.
- Abstract
Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis-ichthyosis-deafness (KIDAR) syndrome Five recently described cases with I AP1B1 i mutations and our index patient share almost the same phenotype including ichthyosis, erythroderma, deafness and developmental delay. Dear Editor, Recently, mutations in adaptor-related protein complex 1 subunit beta 1 (AP1B1) have been identified as the cause of a new form of syndromic ichthyosis, which is characterized by neonatal onset of ichthyosis, erythroderma and deafness accompanied by failure to thrive and developmental delay.1,2 In adulthood, keratitis has been diagnosed as well.1 Based on the observed phenotype and the autosomal recessive mode of inheritance, the disease has been classified as a keratitis-ichthyosis-deafness syndrome (KIDAR; OMIM 242150).
- Subjects
ICHTHYOSIS; GENETIC variation; SYNDROMES
- Publication
British Journal of Dermatology, 2021, Vol 184, Issue 6, p1190
- ISSN
0007-0963
- Publication type
Article
- DOI
10.1111/bjd.19815