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Genetic Heterogeneity of KID Syndrome: Identification of a Cx30 Gene (GJB6) Mutation in a Patient with KID Syndrome and Congenital Atrichia  Amy Y. Jan,

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Presentation on theme: "Genetic Heterogeneity of KID Syndrome: Identification of a Cx30 Gene (GJB6) Mutation in a Patient with KID Syndrome and Congenital Atrichia  Amy Y. Jan,"— Presentation transcript:

1 Genetic Heterogeneity of KID Syndrome: Identification of a Cx30 Gene (GJB6) Mutation in a Patient with KID Syndrome and Congenital Atrichia  Amy Y. Jan, Shivan Amin, Paulina Ratajczak, Gabriele Richard, Virginia P. Sybert  Journal of Investigative Dermatology  Volume 122, Issue 5, Pages (May 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

2 Figure 1 Clinical features and histopathology. Six-y–old boy with atrichia of the scalp, eyebrows and eyelashes, generalized mild erythroderma and spiculate, hyperkeratotic papules, here shown on the face (A–C). Note that each tiny white dot represents a filiform hyperkeratosis. Diffuse plantar keratoderma (D) with rough, cobblestone-like surface (D, F) and nail dystrophy with short, thickened nail plates (E). Light microscopy (H/E) of a skin biopsy at 6.5 mo of age (H) revealed paucity of hair follicles, dilatation, and orthokeratotic plugging of appendageal ostia (see close-up in (I)) in contrast to a biopsy from a 5 mo-old patient with congenital ichthyosis (G). Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

3 Figure 2 Mutation analysis. (A) Compared with the wild-type sequence (upper chromatogram), mutation analysis in the patient demonstrated a heterozygous T to A transversion, resulting in the substitution of valine with glutamic acid (V37E) (lower chromatogram). (B) dHPLC analysis of Cx30 PCR amplicons encompassing the mutation site revealed heteroduplex formation in the patient sample (double peak, lower panel), which is not present in his unaffected mother (single peak, upper panel) and unaffected controls. (C) Sequence alignment of multiple human and rodent connexins demonstrated a strong conservation of the valine residue at this position in the first transmembrane domain. (D) Schematic representation of Cx30 depicting the predicted structural motifs and the position of pathogenic mutations with cutaneous manifestation (arrows). NT: cytoplasmic amino-terminus; M1–M4: transmembrane domains; E1, E2: extracellular domains; CL: cytoplasmic loop; CT: cytoplasmic carboxy-terminus. Journal of Investigative Dermatology  , DOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

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