Department of Medical Genetics, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Department of Radiology, Escola Paulista de Medicina, Universidade Federal de São Paulo, São Paulo, Brazil.
Am J Med Genet A. 2020 Dec;182(12):3029-3034. doi: 10.1002/ajmg.a.61896. Epub 2020 Oct 3.
Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.
肯尼-卡菲综合征（KCS）是一种罕见的遗传性骨骼疾病，涉及甲状旁腺功能减退症。常染色体显性形式（KCS2）由 FAM111A 基因的杂合致病性变异引起，与常染色体隐性形式（KCS1）和 Sanjad-Sakati 综合征（SSS）不同，后者均由微管折叠辅助因子 E（TBCE）基因的致病性变异引起，不伴有小头畸形和智力障碍。我们报告了一例由 FAM111A 基因 c.1706G>A（p.Arg569His）新发致病性变异引起的 KCS2 患者，表现为智力障碍和小头畸形，这被认为是 SSS 的典型表现。我们建议 KCS1、KCS2 和 SSS 可能并不代表相互排斥的临床实体，而可能是一个重叠的谱。
