Abstract:
BACKGROUND:Fowler syndrome is a rare autosomal recessive disorder characterized by hydranencephaly-hydrocephaly and multiple pterygium due to fetal akinesia. To date, around 45 cases from 27 families have been reported, and the pathogenic bi-allelic mutations in FLVCR2 gene described in 15 families. The pathogenesis of this condition has not been fully elucidated so far. METHODS:We report on an additional family with two affected fetuses carrying a novel homozygous mutation in FLVCR2 gene, and describe the impact of known mutants on the protein structural and functional impairment. RESULTS:The present report confirms the genetic homogeneity of Fowler syndrome and describes a new FLVCR2 mutation affecting the protein function. The structural analysis of the present and previously published FLVCR2 mutations supports the hypothesis of a reduced heme import as the underlying disease's mechanism due to the stabilization of the occluded conformation or a protein misfolding. CONCLUSION:Our data suggest the hypothesis of heme deficiency as the major pathogenic mechanism of Fowler syndrome.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Radio FC,Di Meglio L,Agolini E,Bellacchio E,Rinelli M,Toscano P,Boldrini R,Novelli A,Di Meglio A,Dallapiccola Bdoi
10.1002/mgg3.376subject
Has Abstractpub_date
2018-05-01 00:00:00pages
446-451issue
3issn
2324-9269journal_volume
6pub_type
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更新日期:2013-05-01 00:00:00
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