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Acrokeratosis Verruciformis of Hopf is Caused by Mutation in ATP2A2: Evidence That it is Allelic to Darier's Disease  Jittima Dhitavat, Leonard Dode,

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Presentation on theme: "Acrokeratosis Verruciformis of Hopf is Caused by Mutation in ATP2A2: Evidence That it is Allelic to Darier's Disease  Jittima Dhitavat, Leonard Dode,"— Presentation transcript:

1 Acrokeratosis Verruciformis of Hopf is Caused by Mutation in ATP2A2: Evidence That it is Allelic to Darier's Disease  Jittima Dhitavat, Leonard Dode, Natalie Leslie, Anavaj Sakuntabhai  Journal of Investigative Dermatology  Volume 120, Issue 2, Pages (February 2003) DOI: /j t x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Family pedigree. Affection with AKV shown by solid circle/square with details of clinical involvement. The proband is marked by an arrow. A clear autosomal dominant pattern of inheritance is seen. Journal of Investigative Dermatology  , DOI: ( /j t x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Clinical features of patients and histopathology of acral papule from the proband. (a) Dorsal aspect of left foot showing multiple flat-topped papules typical of AKV. (b) Ridging, longitudinal striations, and splitting of nails similar to that described in one of Hopf's original cases. “The nails all have an opaque, whitish and almost marbled appearance. The normal parts of the nails are only maintained as narrow red longitudinal strips. Apart from that, the nails show lamella fissuring and splintering at the free edge.” (c) Section of acral papule showing marked hyperkeratosis, acanthosis, and papillomatosis, but no dyskeratosis. The typical “church spire” appearance of the epidermis is clearly seen. Journal of Investigative Dermatology  , DOI: ( /j t x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

4 Figure 3 Identification of ATP2A2 mutation. (a) CSGE showed abnormal electrophoretic mobility of exon 14. Lanes 1–3: control 1, control 2, and the proband. (b) Direct sequencing of PCR products revealed a C to T substitution at nucleotide position 1805, resulting in the proline to leucine change at position 602 (P602L). Journal of Investigative Dermatology  , DOI: ( /j t x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

5 Figure 4 Functional analysis of P602L mutant. (a) Western blot analysis. Microsomes overexpressing the indicated SERCA2 proteins were immunostained with a SERCA2b-specific polyclonal antibody (dilution 1 : 500). The 212 kDa band corresponds to SERCA2b dimers (Verboomen et al, 1994). (b) Time dependence of Ca2+ transport. Ca2+ uptake rate for wild-type SERCA2b is 5.0 nmoles Ca2+ per mg protein per min. Ca2+ uptake rate for P602L mutant is indistinguishable from that of the control microsomes expressing endogenous SERCA2b protein. Journal of Investigative Dermatology  , DOI: ( /j t x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

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