Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia

Miao Sun, Ning Li, Wu Dong, Zugen Chen, Qing Liu, Yiming Xu, Guang He, Yongyong Shi, Xin Li, Jiajie Hao, Yang Luo, Dandan Shang, Dan Lv, Fen Ma, Dai Zhang, Rui Hua, Chaoxia Lu, Yaran Wen, Lihua Cao, Alan D. IrvineW. H. Irwin McLean, Qi Dong, Ming-Rong Wang, Jun Yu, Lin He, Wilson H. Y. Lo, Xue Zhang

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    61 Citations (Scopus)


    Congenital generalized hypertrichosis terminalis (CGHT) is a rare condition characterized by universal excessive growth of pigmented terminal hairs and often accompanied with gingival hyperplasia. In the present study, we describe three Han Chinese families with autosomal-dominant CGHT and a sporadic case with extreme CGHT and gingival hyperplasia. We first did a genome-wide linkage scan in a large four-generation family. Our parametric multipoint linkage analysis revealed a genetic locus for CGHT on chromosome 17q24.2-c24.3. Further two-point linkage and haplotyping with microsatellite markers from the same chromosome region confirmed the genetic mapping and showed in all the families a microdeletion within the critical region that was present in all affected individuals but not in unaffected family members. We then carried out copy-number analysis with the Affymetrix Genome-Wide Human SNP Array 6.0 and detected genomic microdeletions of different sizes and with different breakpoints in the three families. We validated these microdeletions by real-time quantitative PCR and confirmed their perfect cosegregation with the disease phenotype in the three families. In the sporadic case, however, we found a de novo microduplication. Two-color interphase FISH analysis demonstrated that the duplication was inverted. These copy-number variations (CNVs) shared a common genomic region in which CNV is not reported in the public database and was not detected in Our 434 unrelated Han Chinese normal controls. Thus, pathogenic copy-number mutations on 17q24.2-q24.3 are responsible for CGHT with or without gingival hyperplasia. Our work identifies CGHT as a genomic disorder.

    Original languageEnglish
    Pages (from-to)807-813
    Number of pages7
    JournalAmerican Journal of Human Genetics
    Issue number6
    Publication statusPublished - 12 Jun 2009


    • MKK6
    • 3P14.3
    • LOCI
    • MICE


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