Abstract：
Atrichia with papular lesions (APL) is a hair abnormality characterized by loss of hair on the scalp and rest of the body. In a few cases, hair loss is accompanied by the appearance of keratotic papules on the body. It is inherited in an autosomal recessive manner. Sequence variants in the HR (hairless) gene are responsible for this hair abnormality. Here, we present nine consanguineous families and one nonconsanguineous family with clinical manifestations of APL. Whole exome followed by Sanger sequencing and/or direct Sanger sequencing was performed to identify pathogenic variants. The study revealed seven novel pathogenic variants c.794del;p.(Pro265Argfs*98), c.2921-2936del;p.(Tyr974Leufs*16), c.2889C>A;p.(Cys963*), c.2689C>T;p.(Gln897*), c.3186_3187dup;p.(Gln1063Profs*43), c.560dup;p.(Tyr188Ilefs*131), c.2203+5G>C, c.2776+5G>A, and the previously reported variant c.1837C>T;p.(Arg613*) in HR in these families. The study not only expands the mutational spectrum in the HR gene but also highlights the unusual phenotypic findings and will facilitate genetic counseling of families with members showing various types of hair loss disorders in the local population.
摘要：
伴有丘疹性病变（APL）的毛发异常是一种毛发异常，其特征是头皮和身体其他部位的毛发脱落。在少数情况下,脱发伴随着身体上角化丘疹的出现。它以常染色体隐性方式遗传。HR(无毛)基因中的序列变体是这种毛发异常的原因。这里,我们介绍了9个具有APL临床表现的近亲家庭和1个非近亲家庭。进行全外显子组后进行Sanger测序和/或直接Sanger测序以鉴定致病变体。该研究揭示了七个新的致病变体c.794del；p。（Pro265Argfs*98），c.2921-2936del；p.（Tyr974Leufs*16），c.2889C>A；p.(Cys963*),c.2689C>T；p.(Gln897*),c.3186_3187dup；p。（Gln1063Profs*43），c.560dup；p.（Tyr188Ilefs*131），c.2203+5G>C，c.2776+5G>A，和先前报道的变体c.1837C>T；p.（Arg613*）在这些家庭的HR中。该研究不仅扩展了HR基因的突变谱，而且突出了不寻常的表型发现，并将促进对当地人口中显示各种类型脱发障碍的成员的家庭的遗传咨询。
