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

Details

Serval ID
serval:BIB_1EFE49EE2206
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Mother and daughter with Kenny-Caffey Syndrome: the adult phenotype.
Journal
European journal of medical genetics
Author(s)
Tonelli L., Sanchini M., Margutti A., Buldrini B., Superti-Furga A., Ferlini A., Selvatici R., Bigoni S.
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Publication state
In Press
Peer-reviewed
Oui
Pages
104943
Language
english
Notes
Publication types: Case Reports
Publication Status: aheadofprint
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.
Pubmed
Open Access
Yes
Create date
03/05/2024 16:05
Last modification date
04/05/2024 7:07
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