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Inactivation of AMMECR1 is associated with growth, bone, and heart alterations

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Date
2018
Author
Moyses-Oliveira, Mariana [UNIFESP]
Giannuzzi, Giuliana
Fish, Richard J.
Rosenfeld, Jill A.
Petit, Florence
Soares, Maria de Fatima [UNIFESP]
Kulikowski, Leslie Domenici
Di-Battista, Adriana [UNIFESP]
Zamariolli, Malu [UNIFESP]
Xia, Fan
Liehr, Thomas
Kosyakova, Nadezda
Carvalheira, Gianna [UNIFESP]
Parker, Michael
Seaby, Eleanor G.
Ennis, Sarah
Gilbert, Rodney D.
Hagelstrom, R. Tanner
Cremona, Maria L.
Li, Wenhui L.
Malhotra, Alka
Chandrasekhar, Anjana
Perry, Denise L.
Taft, Ryan J.
McCarrier, Julie
Basel, Donald G.
Andrieux, Joris
Stumpp, Taiza
Antunes, Fernanda [UNIFESP]
Pereira, Gustavo Jose [UNIFESP]
Neerman-Arbez, Marguerite
Meloni, Vera Ayres [UNIFESP]
Drummond-Borg, Margaret
Melaragno, Maria Isabel [UNIFESP]
Reymond, Alexandre
Type
Artigo
ISSN
1059-7794
Is part of
Human Mutation
DOI
10.1002/humu.23373
Metadata
Show full item record
Abstract
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome
 
two boys with maternally inherited and de novo nonsense variants
 
and two half-brothers with maternally inherited microdeletion variants. They present with short stature, cardiac and skeletal abnormalities, and hearing loss. Variants of unknown significance in AMMECR1 in four male patients from two families with partially overlapping phenotypes were previously reported. AMMECR1 is coexpressed with genes implicated in cell cycle regulation, five of which were previously associated with growth and bone alterations. Our knockdown of the zebrafish orthologous gene resulted in phenotypes reminiscent of patients' features. The increased transcript and encoded protein levels of AMMECR1L, an AMMECR1 paralog, in the t(X;9) patient's cells indicate a possible partial compensatory mechanism. AMMECR1 and AMMECR1L proteins dimerize and localize to the nucleus as suggested by their nucleic acid-binding RAGNYA folds. Our results suggest that AMMECR1 is potentially involved in cell cycle control and linked to a new syndrome with growth, bone, heart, and kidney alterations with or without elliptocytosis.
 
Citation
Human Mutation. Hoboken, v. 39, n. 2, p. 281-291, 2018.
Keywords
AMMECR1
bone dysplasia
growth delay
heart alteration
X-linked disease
Sponsorship
Fundacao de Amparo a Pesquisa do Estado de Sao Paulo
Faculty of Biology and Medicine, University of Lausanne
Swiss National Science Foundation
Lithuanian-Swiss Cooperation Program
URI
https://repositorio.unifesp.br/handle/11600/54235
Collections
  • EPM - Artigos [16303]

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