首例 Kindler 综合征家系中 c.1676G>A 纯合变异的报道。
First report of the c.1676G>A homozygous variant in a family with Kindler syndrome.
机构信息
Departments of Dermatology, Konya City Hospital, Konya, Turkey.
Medical Genetics, Konya City Hospital, Konya, Turkey.
出版信息
Clin Exp Dermatol. 2022 Jul;47(7):1421-1423. doi: 10.1111/ced.15155. Epub 2022 Apr 6.
Kindler syndrome (KS) was first described by Theresa Kindler in 1954, and since then > 60 pathogenic variants have been identified in the FERMT1 gene for KS. Most FERMT1 variants associated with KS are null variants. We present the case of a child with poikilodermic changes on the forehead and cheeks, who was found to have a homozygous c.1676G>A mutation. To our knowledge, this is the first report of this mutation in a family with KS.
Kindler 综合征（KS）于 1954 年由 Theresa Kindler 首次描述，此后在 FERMT1 基因中已发现 >60 种与 KS 相关的致病性变异。大多数与 KS 相关的 FERMT1 变异为无义变异。我们报告了一例额部和颊部出现斑驳样改变的患儿，其被发现存在纯合 c.1676G>A 突变。据我们所知，这是该突变在 KS 家系中的首次报道。
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