Founder Mutations in the Lipase H Gene in Families with Autosomal Recessive Woolly Hair/Hypotrichosis Yutaka Shimomura, Muhammad Wajid, Abraham Zlotogorski,

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Founder Mutations in the Lipase H Gene in Families with Autosomal Recessive Woolly Hair/Hypotrichosis Yutaka Shimomura, Muhammad Wajid, Abraham Zlotogorski, Young-Jin Lee, Robert H. Rice, Angela M. Christiano Journal of Investigative Dermatology Volume 129, Issue 8, Pages 1927-1934 (August 2009) DOI: 10.1038/jid.2009.19 Copyright © 2009 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Pedigrees and clinical features of two Guyanese families with ARWH. (a) Pedigree of Family A. (b) Clinical features of the affected individuals II-1 (left panel) and II-2 (right panel) in Family A when they were 12 and 10 years old, respectively. Note that both showed an obvious woolly hair phenotype. (c) Present clinical features of the affected individual II-1 in Family A. (d and e) Under light microscopy, hair shafts of the affected individual II-1 in Family A show (d) twisting and a (e) tapered end. Bars=100μm. (f) Pedigree of Family B. (g and h) Hair phenotypes of the affected individuals in Family B. (g) The affected individual II-1 shows sparse and tightly curled hair, whereas (h) the affected individual II-3 shows sparse and mildly wavy hair. (i) Diffuse keratotic follicular papules on legs of the affected individual II-1 in Family B. Journal of Investigative Dermatology 2009 129, 1927-1934DOI: (10.1038/jid.2009.19) Copyright © 2009 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Identification of mutations in the LIPH gene. (a) Heterozygous mutation 1303_1309dupGAAAACG in the LIPH of Family A (top panel). The inserted nucleotides are boxed. Screening assay for the mutation 1303_1309dupGAAAACG (bottom panel) shows that the mutation was inherited from the mother (I-2) of the affected individuals (II-1 and II-2). C, control individuals. (b) Heterozygous mutation Ex7_8del in the LIPH of Family A. PCR with E7F2 and E8R2 primers amplified the 183bp fragment from DNA of both affected individuals (II-1 and II-2) and their father (I-1) in Family A, as well as a Pakistani individual who is homozygous for the mutation Ex7_8del (PC, positive control), whereas this fragment was not amplified from DNA of either their mother (I-2) or a normal control individual (NC, negative control). Direct sequencing of this product shows that Family A carries exactly the same deletion mutation Ex7_8del that was found earlier in Pakistani families with ARWH. Note that the product from the wild-type allele, 5,473bp in size, could not be amplified even from DNA of control individuals because of a short extension time of the PCR. (a and b) Affected individuals are colored in red. MWM, molecular weight markers (a and b). (c) Homozygous mutation 659-660delTA in the LIPH gene of Family B. The position of the deletion is indicated by an arrow (left), and the deleted nucleotides are boxed (right). Journal of Investigative Dermatology 2009 129, 1927-1934DOI: (10.1038/jid.2009.19) Copyright © 2009 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Haplotype of members of the Families A and B in the LIPH locus. The position and the direction of transcription of the LIPH gene are indicated by an arrow. In Family A, the haplotypes for the mutations Ex7_8del and 1303_1309dupGAAAACG are colored in red and blue, respectively. The common haplotype for the mutation Ex7_8del between Family A and Pakistani families is highlighted in yellow, and that for the mutation 659-660delTA between Family B and Pakistani families is highlighted in blue. The haplotypes of a Pakistani family that is homozygous for either Ex7_8del or 659_660delTA are boxed. Journal of Investigative Dermatology 2009 129, 1927-1934DOI: (10.1038/jid.2009.19) Copyright © 2009 The Society for Investigative Dermatology, Inc Terms and Conditions