Mother and daughter with Kenny-Caffey syndrome: the adult phenotype

L Tonelli; M Sanchini; A Margutti; B Buldrini; A Superti-Furga; A Ferlini; R Selvatici; S Bigoni

doi:10.1016/j.ejmg.2024.104943

Mother and daughter with Kenny-Caffey syndrome: the adult phenotype

Eur J Med Genet. 2024 Apr 27:69:104943. doi: 10.1016/j.ejmg.2024.104943. Online ahead of print.

Authors

L Tonelli¹, M Sanchini¹, A Margutti¹, B Buldrini², A Superti-Furga³, A Ferlini⁴, R Selvatici⁵, S Bigoni²

Affiliations

¹ Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.
² Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.
³ Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011, Lausanne, Switzerland.
⁴ 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.
⁵ 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. Electronic address: svr@unife.it.

PMID: 38679371
DOI: 10.1016/j.ejmg.2024.104943

Abstract

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.

Publication types

Case Reports