NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

被引：23

作者：

Gurrieri, Fiorella ^{[1
]}

Cavaliere, Maria Luigia ^{[2
]}

Wischmeijer, Anita ^{[3
,4
]}

Mammi, Corrado ^{[5
]}

Neri, Giovanni ^{[1
]}

Pisanti, Maria Antonietta ^{[2
]}

Rodella, Giulia ^{[3
]}

Lagana, Carmelo ^{[5
]}

Priolo, Manuela ^{[5
]}

机构：

[1] Univ Cattolica Sacro Cuore, Ist Genet Med, Rome, Italy

[2] Cardarelli Hosp, UO Genet Med, Naples, Italy

[3] Univ Bologna, Azienda Osped Univ Policlin S Orsola Malpighi, UO Genet Med, Bologna, Italy

[4] Azienda Osped ASMN, SSD Genet Clin, Ist Ricovero & Cura Carattere Sci, Reggio Emilia, Italy

[5] Azienda Osped Bianchi Melacrino Morelli, UO Genet Med, I-89100 Reggio Di Calabria, Italy

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2015年 / 58卷 / 09期

关键词：

DNA-Binding/dimerization domain; NFIX; MH1; domain; Overgrowth syndrome; MARSHALL-SMITH-SYNDROME; SOTOS-LIKE; BINDING/DIMERIZATION DOMAIN; NATURAL-HISTORY;

D O I：

10.1016/j.ejmg.2015.06.009

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The Nuclear Factor I-X (NFIX) is a member of the nuclear factor I (NFI) protein family and is deleted or mutated in a subset of patients with a peculiar overgrowth condition resembling Sotos Syndrome as well as in patients with Marshall-Smith syndrome. We identified three additional patients with this phenotype each carrying a different new mutation affecting the DNA-binding/dimerization domain of the NFIX protein. The present report further adds weight to the hypothesis that mutations in DNA-binding/dimerization domain are likely to cause haploinsufficiency of the NFIX protein and confirms that NFIX is the second gene that should be tested in individuals with overgrowth conditions resembling Sotos syndrome, previously tested negative for NSD1 mutations. We then propose to consider this overgrowth syndrome (namely Malan syndrome) and Marshall-Smith syndrome NFIX-related diseases. (C) 2015 Elsevier Masson SAS. All rights reserved.

引用

页码：488 / 491

页数：4

共 11 条

[1] Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities [J].

Adam, MP ;

Hennekam, RCM ;

Keppen, LD ;

Bull, MJ ;

Clericuzio, CL ;

Burke, LW ;

Ormond, KE ;

Hoyme, HE .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2005, 137A (02) :117-124

[2]

Klaassens M., 2014, EUR J HUM GENET, V162, P1

[3] A Clinical Study of Sotos Syndrome Patients With Review of the Literature [J].

Leventopoulos, George ;

Kitsiou-Tzeli, Sophia ;

Kritikos, Konstantinos ;

Psoni, Stavroula ;

Mavrou, Ariadni ;

Kanavakis, Emmanuel ;

Fryssira, Helen .

PEDIATRIC NEUROLOGY, 2009, 40 (05) :357-364

[4] Distinct Effects of Allelic NFIX Mutations on Nonsense-Mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome [J].

Malan, Valerie ;

Rajan, Diana ;

Thomas, Sophie ;

Shaw, Adam C. ;

Picard, Helene Louis Dit ;

Layet, Valerie ;

Till, Marianne ;

van Haeringen, Arie ;

Mortier, Geert ;

Nampoothiri, Sheela ;

Puseljic, Silvija ;

Legeai-Mallet, Laurence ;

Carter, Nigel P. ;

Vekemans, Michel ;

Munnich, Arnold ;

Hennekam, Raoul C. ;

Colleaux, Laurence ;

Cormier-Daire, Valerie .

AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 87 (02) :189-198

[5] A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case [J].

Priolo, Manuela ;

Grosso, Enrico ;

Mammi, Corrado ;

Labate, Claudia ;

Naretto, Valeria Giorgia ;

Vacalebre, Caterina ;

Caridi, Paola ;

Lagana, Carmelo .

GENE, 2012, 511 (01) :103-105

[6] A Proteome-Scale Map of the Human Interactome Network [J].

Rolland, Thomas ;

Tasan, Murat ;

Charloteaux, Benoit ;

Pevzner, Samuel J. ;

Zhong, Quan ;

Sahni, Nidhi ;

Yi, Song ;

Lemmens, Irma ;

Fontanillo, Celia ;

Mosca, Roberto ;

Kamburov, Atanas ;

Ghiassian, Susan D. ;

Yang, Xinping ;

Ghamsari, Lila ;

Balcha, Dawit ;

Begg, Bridget E. ;

Braun, Pascal ;

Brehme, Marc ;

Broly, Martin P. ;

Carvunis, Anne-Ruxandra ;

Convery-Zupan, Dan ;

Corominas, Roser ;

Coulombe-Huntington, Jasmin ;

Dann, Elizabeth ;

Dreze, Matija ;

Dricot, Amelie ;

Fan, Changyu ;

Franzosa, Eric ;

Gebreab, Fana ;

Gutierrez, Bryan J. ;

Hardy, Madeleine F. ;

Jin, Mike ;

Kang, Shuli ;

Kiros, Ruth ;

Lin, Guan Ning ;

Luck, Katja ;

MacWilliams, Andrew ;

Menche, Joerg ;

Murray, Ryan R. ;

Palagi, Alexandre ;

Poulin, Matthew M. ;

Rambout, Xavier ;

Rasla, John ;

Reichert, Patrick ;

Romero, Viviana ;

Ruyssinck, Elien ;

Sahalie, Julie M. ;

Scholz, Annemarie ;

Shah, Akash A. ;

Sharma, Amitabh .

CELL, 2014, 159 (05) :1212-1226

[7] Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome [J].

Schanze, Denny ;

Neubauer, Dorothee ;

Cormier-Daire, Valerie ;

Delrue, Marie-Ange ;

Dieux-Coeslier, Anne ;

Hasegawa, Tomonobu ;

Holmberg, Eva E. ;

Koenig, Rainer ;

Krueger, Gabriele ;

Schanze, Ina ;

Seemanova, Eva ;

Shaw, Adam C. ;

Vogt, Julie ;

Volleth, Marianne ;

Reis, Andre ;

Meinecke, Peter ;

Hennekam, Raoul C. M. ;

Zenker, Martin .

HUMAN MUTATION, 2014, 35 (09) :1092-1100

[8] Phenotype and Natural History in Marshall-Smith Syndrome [J].

Shaw, Adam C. ;

van Balkom, Inge D. C. ;

Bauer, Mislen ;

Cole, Trevor R. P. ;

Delrue, Marie-Ange ;

Van Haeringen, Arie ;

Holmberg, Eva ;

Knight, Samantha J. L. ;

Mortier, Geert ;

Nampoothiri, Sheela ;

Puseljic, Silvija ;

Zenker, Martin ;

Cormier-Daire, Valerie ;

Hennekam, Raoul C. M. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2010, 152A (11) :2714-2726

[9] Relationship between the DNA binding domains of SMAD and NFI/CTF transcription factors defines a new superfamily of genes [J].

Stefancsik, R ;

Sarkar, S .

DNA SEQUENCE, 2003, 14 (04) :233-239

[10] Sotos syndrome [J].

Tatton-Brown, Katrina ;

Rahman, Nazneen .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2007, 15 (03) :264-271

← 1 2 →