A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut.

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A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut Lam, Marija Tadin-Strapps, Angela M. Christiano Journal of Investigative Dermatology Volume 123, Issue 3, Pages 607-610 (September 2004) DOI: 10.1111/j.0022-202X.2004.23311.x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical presentation of LAH in individuals II-1 (A–C) and II-2 (D–E). (A) Note the sparse hair in the older sibling, age 5 y and 9 mo (A–C) and the complete alopecia in the younger sibling, aged 18 mo (C–D). Follicular hyperkeratosis is apparent on the scalp and the eyebrows. Journal of Investigative Dermatology 2004 123, 607-610DOI: (10.1111/j.0022-202X.2004.23311.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Molecular analysis of the DSG4 gene in the family. (A) The two affected siblings belong to a consanguineous pedigree, with first-cousin parents. (B) PCR amplification of exons 4 through 9 (upper panel) revealed absence of amplification of exons 5–8 in the two patients (II-1 and II-2), whereas PCR bands of correct size were obtained from the parents' genomic DNA (I-1 and I-2). When using a forward PCR primer in intron 4 and a reverse primer in intron 8 (lower panel), a novel PCR fragment was obtained in all family members, corresponding to the deletion allele. (C) Sequence analysis of the PCR products revealed a homozygous deletion encompassing exons 5 through 8 in the two affected individuals. Both parents are heterozygous for a wild-type and a deletion allele. The sequence of the mutant allele at the intron 4–intron 8 junction is shown (arrow). Wild-type maternal sequence for introns 4 and 8 are shown for comparison. Journal of Investigative Dermatology 2004 123, 607-610DOI: (10.1111/j.0022-202X.2004.23311.x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions