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

Date
2018Author
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
ArtigoISSN
1059-7794Is part of
Human MutationDOI
10.1002/humu.23373Metadata
Show full item recordAbstract
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.Sponsorship
Fundacao de Amparo a Pesquisa do Estado de Sao PauloFaculty of Biology and Medicine, University of Lausanne
Swiss National Science Foundation
Lithuanian-Swiss Cooperation Program
Collections
- EPM - Artigos [16303]
Related items
Showing items related by title, author, creator and subject.
-
I Diretriz brasileira de cardio-oncologia pediátrica da Sociedade Brasileira de Cardiologia
Seber, Adriana [UNIFESP]; Miachon, Adriana Siviero [UNIFESP]; Tanaka, Ana Cristina Sayuri; Spinola-Castro, Angela Maria [UNIFESP]; Carvalho, Antonio Carlos [UNIFESP]; Petrilli, Antonio Sergio [UNIFESP]; Macedo, Carla Renata Pacheco Donato [UNIFESP]; Nars, Clarissa Carvalho Fongaro [UNIFESP]; Terzian, Claudia Naufel [UNIFESP]; Castro Junior, Claudio Galvão de; Santos, Cleusa Cavalcanti Lapa; Guerra, Cristina Chaves dos Santos; Silva, Dafne Cardoso Bourguignon da [UNIFESP]; Bassi, Débora Ugayama; Azeka, Estela; Feitosa, Fabiana Aragão; Hamamoto, Fernando [UNIFESP]; Szarf, Gilberto [UNIFESP]; Lederman, Henrique Manoel [UNIFESP]; Rigon Junior, Humberto João; Jatene, Ieda Biscegli; Mota, Isabele Coelho Fonseca da; Perrud, Jeferson Adriano [UNIFESP]; Soares Junior, José; Gutierrez, Julián Arango; Perin, Juliana Pepe Marinho [UNIFESP]; Soares, Juliana dos Santos [UNIFESP]; Catani, Liane Hulle; Tsai, Liliana Yu [UNIFESP]; Vianna, Livia Cristina [UNIFESP]; Paiva, Marcelo Goulart; Santos, Marcelo José; Ishigai, Marcia Marcelino de Souza [UNIFESP]; Diógenes, Maria Suely Bezerra [UNIFESP]; Alves, Maria Teresa de Seixas [UNIFESP]; Piedade, Maria Tereza Castro [UNIFESP]; Parreiras, Mariana; Cypriano, Mônica [UNIFESP]; Negrini, Nilce da Silva [UNIFESP]; Campos Filho, Orlando [UNIFESP]; Figueiredo, Paula Andrade [UNIFESP]; Novaes, Paulo Eduardo [UNIFESP]; Camargo, Paulo Roberto [UNIFESP]; Maia, Priscila dos Santos [UNIFESP]; Petrilli, Renata [UNIFESP]; Arduini, Rodrigo Genaro [UNIFESP]; Gouveia, Roseane Vasconcelos [UNIFESP]; Teruya, Suzana Barbosa Miranda [UNIFESP]; Moisés, Valdir Ambrósio [UNIFESP]; Morais, Vera Lúcia Lins de (Sociedade Brasileira de Cardiologia - SBC, 2013-05-01) -
Guerras culturais em verde e amarelo
Arantes, Pedro Fiori [UNIFESP]; Okuma, André [UNIFESP]; Nascimento, Giulia dos Santos [UNIFESP]; Melo, Keyla Vasconcelos de [UNIFESP]; Lorena, Diego [UNIFESP]; Alves, Amanda [UNIFESP]; Brait, Ana Laura [UNIFESP]; Alves, Gustavo Almeida [UNIFESP]; Fernandes, Cristina Naiara [UNIFESP]; Avelino, Larissa [UNIFESP]; Paloma, Oliveira [UNIFESP]; Bertellotti, André Zaparoli [UNIFESP]; Carreño, Rebeca Nieves Inostroza [UNIFESP]; Feo, Amanda [UNIFESP]; Andrade, Bruna [UNIFESP]; Garotti, Josiane [UNIFESP]; Flauto, Larissa [UNIFESP]; Tavares, Melissa [UNIFESP]; Barbosa, Ana Beatriz Tavares [UNIFESP]; Alejarra, Melissa Maria dos Santos [UNIFESP]; Santos, Nicole Pinheiro [UNIFESP]; Dourado, Kamilla [UNIFESP]; Silva, Pamela [UNIFESP]; Goyano, Lucius [UNIFESP]; Meneses, Maria Luiza [UNIFESP]; Ferreira, Gabriela [UNIFESP]; Monteiro, Paloma [UNIFESP]; Oliveira, Marcelo Lauton de [UNIFESP]; Paula, Patrícia Pinheiro Antunes de [UNIFESP]; Santos, Isabella Mendes dos [UNIFESP]; Borges, Júlia Rodrigues [UNIFESP] (Universidade Federal de São Paulo, 2022)Queridos/as leitores/as, bem-vindos/as ao nosso campo de batalha – e de estudos. Vocês estão prestes a ler um livro perigoso. Ele fala sobre muito do que estamos vivendo no Brasil dos últimos anos, olhando esse nosso ...
-
Experience Report on Setting Up a Transdisciplinary Outpatient Unit for Transgender Health
Vieira, Denise Leite [UNIFESP]; Fanganiello, Ana Luiza [UNIFESP]; Zaneti, Marina Milograna [UNIFESP]; Vieira, Fernanda de Sousa [UNIFESP]; Brasolin, Adriano [UNIFESP]; Rocha, Natalia Turena [UNIFESP]; Souza, Eduardo Sodré de [UNIFESP]; Silveira, Mariana [UNIFESP]; Cervi, Thales [UNIFESP]; Penteado, Sonia [UNIFESP]; Brito, Maria Jose [UNIFESP]; Alves, Juliana [UNIFESP]; Mota, Marisa [UNIFESP]; Holanda, Fabiola [UNIFESP]; Tanaka, Luiza [UNIFESP]; Fernandes, Maria Jose [UNIFESP]; Takano, Claudia [UNIFESP]; Yarak, Samira [UNIFESP]; Azevedo, Renata [UNIFESP]; Gois, Aecio [UNIFESP]; Silva, Ivaldo [UNIFESP]; Mari, Jair [UNIFESP]; Pereira, Pedro [UNIFESP]; Ferreira, Lydia [UNIFESP]; Dias-Da-Silva, Magnus R. [UNIFESP] (Wiley, 2017)