In:
Genes, MDPI AG, Vol. 13, No. 2 ( 2022-01-28), p. 261-
Abstract:
Osteocraniostenosis (OCS, OMIM #602361) is a severe, usually lethal condition characterized by gracile bones with thin diaphyses, a cloverleaf-shaped skull and splenic hypo/aplasia. The condition is caused by heterozygous mutations in the FAM111A gene and is allelic to the non-lethal, dominant disorder Kenny-Caffey syndrome (KCS, OMIM #127000). Here we report two new cases of OCS, including one with a detailed pathological examination. We review the main diagnostic signs of OCS both before and after birth based on our observations and on the literature. We then review the current knowledge on the mutational spectrum of FAM111A associated with either OCS or KCS, including three novel variants, both from one of the OCS fetuses described here, and from further cases diagnosed at our centers. This report refines the previous knowledge on OCS and expands the mutational spectrum that results in either OCS or KCS.
Type of Medium:
Online Resource
ISSN:
2073-4425
DOI:
10.3390/genes13020261
Language:
English
Publisher:
MDPI AG
Publication Date:
2022
detail.hit.zdb_id:
2527218-4