Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.
Eur J Med Genet. 2024 Jun;69:104943. doi: 10.1016/j.ejmg.2024.104943. Epub 2024 Apr 27.
Kenny-Caffey Syndrome (KCS) is a genetic syndrome characterized by growth retardation with short stature, cortical thickening and medullary stenosis of long bones, and hypoparathyroidism with hypocalcemia. KCS and the related but more severe condition osteocraniostenosis are determined by monoallelic variants in the FAM111A gene. Here we describe the KCS phenotype resulting from the monoallelic FAM111A variant p.Y511H in a 31-year-old woman and in her 56-year-old mother, who is one of the oldest affected individuals known so far. To our knowledge, it is also one of the few molecularly confirmed cases of a mother-to-child transmission of KCS.
肯尼-卡菲综合征（KCS）是一种遗传性综合征，其特征是生长迟缓导致身材矮小、长骨皮质增厚和骨髓狭窄以及甲状旁腺功能减退伴低钙血症。KCS 和相关但更严重的颅面骨发育不全症是由 FAM111A 基因的单等位基因变异决定的。在这里，我们描述了一位 31 岁女性及其 56 岁母亲的 KCS 表型，其母亲携带 FAM111A 基因的单等位基因变异 p.Y511H，她是迄今为止已知的最年长的患者之一。据我们所知，这也是少数几个通过母婴传播 KCS 的分子确诊病例之一。
