Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype.

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
26 Apr 2024
Historique:
received: 30 10 2023
revised: 18 04 2024
accepted: 25 04 2024
medline: 29 4 2024
pubmed: 29 4 2024
entrez: 28 4 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.ejmg.2024.104943 PMID: 38679371
pubmed: 38679371
pii: S1769-7212(24)00035-1
doi: 10.1016/j.ejmg.2024.104943
pii:
doi:

Types de publication

Case Reports

Langues

eng

Sous-ensembles de citation

IM

Pagination

104943

Informations de copyright

Copyright © 2024. Published by Elsevier Masson SAS.

Auteurs

L Tonelli (L)

Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

M Sanchini (M)

Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

A Margutti (A)

Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

B Buldrini (B)

Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.

A Superti-Furga (A)

Division of Genetic Medicine, Lausanne University Hospital, University of Lausanne, 1011, Lausanne, Switzerland.

A Ferlini (A)

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.

R Selvatici (R)

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.

S Bigoni (S)

Medical Genetics Unit, Department of Mother and Child, Ferrara University Hospital, Ferrara, Italy.

Classifications MeSH