Identification of compound heterozygous mutations in AP1B1 leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
| Autor: | M Ahmad-Anwar, Judith Fischer, S Gläser, Andreas Zimmer, J Grothaus, Steffen Hörer, G C Korenke, J Vornweg, Marion Kuhn, Hagen Ott |
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| Rok vydání: | 2021 |
| Předmět: |
Genetics
Ichthyosis business.industry Erythroderma Dermatology Neonatal onset medicine.disease Compound heterozygosity Phenotype Keratitis 030207 dermatology & venereal diseases 03 medical and health sciences 0302 clinical medicine Failure to thrive medicine Missense mutation medicine.symptom business |
| Zdroj: | British Journal of Dermatology. 184:1190-1192 |
| ISSN: | 1365-2133 0007-0963 |
| DOI: | 10.1111/bjd.19815 |
| Popis: | 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). In this letter, we describe an additional case of KIDAR caused by AP1B1 mutations including one novel missense mutation. We also show the molecular consequences of the mutations and define the main features of this new syndrome. |
| Databáze: | OpenAIRE |
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