PMC4594966_01
Pedigree of family with 17p11.2 deletion. The proband (SMS448) is denoted by arrow and carries a maternally inherited 17p11.2 deletion (black semicircle) with intellectual delay (vertical lines) and severe texture aversion behavior (grey). A full-sibling and a half-sibling also display severe texture aversion behavior (grey)
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Fig1
Siblings and maternal grandparents of SMS448 were not tested, and it is not known whether any harbor the copy number variant (CNV) (Fig. 1). Furthermore, other siblings of the proband, including a full and maternal half sibling have a similar hypersensitivity to textures and texture aversion behavior, although they have not been assessed for the CNV (Fig. 1).
Genomic structure of 17p11.2 CNV and ChromHMM ENCODE regulatory sites. (Top) The maternally inherited deletion spans a maximum of about 688 kb and encompasses 9 genes (white). Arrows represent gene orientation. (Bottom) Enlarged region of deletion shows that the maximum distal breakpoint leaves RAI1 coding regions (white) intact. ChromHMM annotated regulatory sites within H1-hESC from ENCODE are labeled directly underneath. Red = active promoter including transcriptional start site, pink = inactive promoter, dark grey = polycomb repressed, yellow = weak enhancer, light green = low activity sites, and blue = insulator sites
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Fig2
Birt-Hogg-Dube syndrome (BHDS, MIM 135150) (Fig. 2, top). BHDS typically features fibrofolliculomas, bilateral lung cysts, history of spontaneous pneumothorax, and bilateral and multifocal renal tumors, but family history was negative for any of these features.