Thiago Rodrigues Cavole1 | Eduardo Perrone1 |
Maria de Fatima de Faria Soares2 | Magnus Régios Dias da Silva3 |
Sergio Setsuo Maeda3 | Marise Lazaretti-Castro3 | Ana Beatriz Alvarez Perez1
1 Department of Medical Genetics, Escola
Paulista de Medicina, Universidade Federal de
S~ao Paulo, S~ao Paulo, Brazil
2 Department of Radiology, Escola Paulista de
Medicina, Universidade Federal de S~ao Paulo,
S~ao Paulo, Brazil
3 Division of Endocrinology, Department of
Medicine, Escola Paulista de Medicina,
Universidade Federal de S~ao Paulo, S~ao Paulo, Brazil
Abstract
Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypo-
parathyroidism. The autosomal dominant form (KCS2), caused by heterozygous path-
ogenic 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 patho-
genic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual dis-
ability 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.
KEYWORDS
FAM111A, hypoparathyroidism, Kenny-Caffey syndrome, Sanjad-Sakati syndrome, TBCE