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Zhimiao Lin, Quan Chen, Lei Shi, Mingyang Lee, Kathrin A

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1 Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia 
Zhimiao Lin, Quan Chen, Lei Shi, Mingyang Lee, Kathrin A. Giehl, Zhanli Tang, Huijun Wang, Jie Zhang, Jinghua Yin, Lingshen Wu, Ruo Xiao, Xuanzhu Liu, Lanlan Dai, Xuejun Zhu, Ruoyu Li, Regina C. Betz, Xue Zhang, Yong Yang  The American Journal of Human Genetics  Volume 91, Issue 5, Pages (November 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical Findings of PHNED
(A) Pedigree of a Chinese Hui family affected by PHNED. The arrow indicates the index individual. Solid symbols indicate individuals with PHNED, and asterisks above pedigree symbols refer to individuals with persistent Müllerian duct syndrome. (B) Congenial alopecia involving the scalp, beard, eyebrows, and eyelashes in individual V2. (C) Close view of axillary area of individual V2 shows that hair shafts break off at the skin surface. Arrows show remnants of unprotruding hair. (D) Severe nail dystrophy affecting all toenails in the index individual (V2). (E) Scalp skin-biopsy section demonstrating normal epidermis and dermis. The arrow shows disorganization in a hair shaft without normal layered structure in the longitudinal section of a hair follicle. Hematoxylin-eosin staining was used. The scale bar represents 30 μm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Homozygous Nonsense Mutation in HOXC13 in the Chinese Family
(A) Sequence chromatograms show the homozygous c.390C>A mutation (resulting in nonsense change p.Tyr130∗) in an affected individual (top panel). The middle panel shows heterozygous alleles in a carrier, and the bottom panel shows alleles in a normal control. (B) qRT-PCR results of HOXC13 mRNA in an affected individual (V2) and a normal control. Only trace expression of HOXC13 was detected in the skin tissue of V2 compared to the normal control. The error bar represents the standard error of the mean (SEM). (C) Immunohistochemistry shows HOXC13 deficiency in a scalp hair follicle of an affected individual (right panel) and expression in the cortex region of a control follicle (left panel). The scale bars represent 30 μm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

4 Figure 3 DNA Electrophoresis Demonstrating a Homozygous Partial Deletion of HOXC13 in an Afghan Female with PHNED A ∼40 kb genomic region containing HOXC13 is shown. The solid bars indicate the positions and sizes of the 18 amplicons, and the deleted ones are highlighted in red. The deleted region is given. The following abbreviation is used: C, control amplicon. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Expression Analysis of the HOXC13 Target Genes
(A) Expression of ACTB (β-actin), FOXN1, DSG4, KRT35, and KRT85 is detected by qRT-PCR and normalized to 18S rRNA. Error bars represent the SEM. (B) Localization of acidic cytokeratin, FOXN1, DSG4, KRT35, and KRT85 in hair follicles from the index individual (V2) and normal control is investigated by immunohistochemistry. Scale bars represent 30 μm. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

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