Confirming the involvement of PIEZO2 in the etiology of Marden-Walker syndrome

Autor:	Abdullah Al Faifi, Sateesh Maddirevula, Abdulmohsen Al Samadi, Abeer M. Miqdad, Fowzan S. Alkuraya, Mohammed Zain Seidahmed
Rok vydání:	2020
Předmět:	0301 basic medicine Adult Male Contracture 030105 genetics & heredity Blepharophimosis Ion Channels Ultrasonography Prenatal 03 medical and health sciences Consanguinity Marden–Walker syndrome Intellectual Disability Female patient Genetics medicine Humans Abnormalities Multiple Amino Acid Sequence Child Connective Tissue Diseases Genetics (clinical) Likely pathogenic Genetic Association Studies Gordon syndrome Arthrogryposis multiplex congenita Sequence Homology Amino Acid business.industry medicine.disease Distal arthrogryposis Pedigree Arachnodactyly Clubfoot 030104 developmental biology Amino Acid Substitution Etiology Female Agenesis of Corpus Callosum business Dandy-Walker Syndrome Sequence Alignment
Zdroj:	American journal of medical genetics. Part AREFERENCES. 185(3)
ISSN:	1552-4833
Popis:	Pathogenic heterozygous variants in PIEZO2 typically cause distal arthrogryposis type 5 (DA5) and the closely related Gordon syndrome (GS). Only one case of PIEZO2-related Marden-Walker syndrome (MWS) has been reported to date. We report the phenotypic features of a Saudi female patient with features consistent with MWS in whom we identified a novel de novo likely pathogenic variant in PIEZO2. Our case lends support to the link between PIEZO2 and MWS.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6de980d62bb707419d2ee878e143ea3c https://pubmed.ncbi.nlm.nih.gov/33369052 Zobrazit plný text záznamu Plný text