Abstract:
:Peeling skin syndrome is a heterogeneous group of rare disorders. Peeling skin, leukonychia, acral punctate keratoses, cheilitis and knuckle pads (PLACK syndrome, OMIM616295) is a newly described form of PSS with an autosomal recessive mode of inheritance. We report a 5.5-year-old boy with features of PLACK syndrome. Additionally, he had mild cerebral atrophy and mild muscle involvements. Whole exome sequencing was performed in genomic DNA of this individual and subsequent analysis revealed a homozygous c.544G > T (p.Glu182*) nonsense mutation in the CAST gene encoding calpastatin. Sanger sequencing confirmed this variant and demonstrated that his affected aunt was also homozygous. Real-time qRT-PCR and immunoblot analysis showed reduced calpastatin expression in skin fibroblasts derived from both affected individuals compared to heterozygous family members. In vitro calpastatin activity assays also showed decreased activity in affected individuals. This study further supports a key role for calpastatin in the tight regulation of proteolytic pathways within the skin.
journal_name
Cell Tissue Resjournal_title
Cell and tissue researchauthors
Temel ŞG,Karakaş B,Şeker Ü,Turkgenç B,Zorlu Ö,Sarıcaoğlu H,Oğur Ç,Kütük Ö,Kelsell DP,Yakıcıer MCdoi
10.1007/s00441-019-03077-9subject
Has Abstractpub_date
2019-11-01 00:00:00pages
267-277issue
2eissn
0302-766Xissn
1432-0878pii
10.1007/s00441-019-03077-9journal_volume
378pub_type
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