Research ExplorerPublicationsDeletions in the 3' part of the NFIX gene including a recurr...

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

Standard

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. / Schanze, Denny; Neubauer, Dorothée; 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, André; Meinecke, Peter; Hennekam, Raoul C M; Zenker, Martin.

In: HUM MUTAT, Vol. 35, No. 9, 09.2014, p. 1092-100.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Schanze, D, Neubauer, D, Cormier-Daire, V, Delrue, M-A, Dieux-Coeslier, A, Hasegawa, T, Holmberg, EE, Koenig, R, Krueger, G, Schanze, I, Seemanova, E, Shaw, AC, Vogt, J, Volleth, M, Reis, A, Meinecke, P, Hennekam, RCM & Zenker, M 2014, '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', HUM MUTAT, vol. 35, no. 9, pp. 1092-100. https://doi.org/10.1002/humu.22603

APA

Schanze, D., Neubauer, D., Cormier-Daire, V., Delrue, M-A., Dieux-Coeslier, A., Hasegawa, T., Holmberg, E. E., Koenig, R., Krueger, G., Schanze, I., Seemanova, E., Shaw, A. C., Vogt, J., Volleth, M., Reis, A., Meinecke, P., Hennekam, R. C. M., & Zenker, M. (2014). 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. HUM MUTAT, 35(9), 1092-100. https://doi.org/10.1002/humu.22603

Vancouver

Schanze D, Neubauer D, Cormier-Daire V, Delrue M-A, Dieux-Coeslier A, Hasegawa T et al. 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. HUM MUTAT. 2014 Sep;35(9):1092-100. https://doi.org/10.1002/humu.22603

Bibtex

@article{0bae728b5031457d867f6ff12db168e1,
title = "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",
abstract = "Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the cause of MSS. In our study cohort of 17 patients with a clinical diagnosis of MSS, conventional sequencing of NFIX revealed frameshift and splice-site mutations in 10 individuals. Using multiplex ligation-dependent probe amplification analysis, we identified a recurrent deletion of NFIX exon 6 and 7 in five individuals. We demonstrate this recurrent deletion is the product of a recombination between AluY elements located in intron 5 and 7. Two other patients had smaller deletions affecting exon 6. These findings show that MSS is a genetically homogeneous Mendelian disorder. RT-PCR experiments with newly identified NFIX mutations including the recurrent exon 6 and 7 deletion confirmed previous findings indicating that MSS-associated mutant mRNAs are not cleared by nonsense-mediated mRNA decay. Predicted MSS-associated mutant NFIX proteins consistently have a preserved DNA binding and dimerization domain, whereas they grossly vary in their C-terminal portion. This is in line with the hypothesis that MSS-associated mutations encode dysfunctional proteins that act in a dominant negative manner.",
keywords = "Abnormalities, Multiple, Adolescent, Adult, Alu Elements, Bone Diseases, Developmental, Child, Child, Preschool, Chromosome Breakpoints, Craniofacial Abnormalities, DNA Mutational Analysis, Exons, Facies, Female, Gene Expression, Genetic Loci, Humans, Infant, Male, Mutation, NFI Transcription Factors, Phenotype, RNA, Messenger, Septo-Optic Dysplasia, Sequence Deletion, Young Adult",
author = "Denny Schanze and Doroth{\'e}e Neubauer and Valerie Cormier-Daire and Marie-Ange Delrue and Anne Dieux-Coeslier and Tomonobu Hasegawa and Holmberg, {Eva E} and Rainer Koenig and Gabriele Krueger and Ina Schanze and Eva Seemanova and Shaw, {Adam C} and Julie Vogt and Marianne Volleth and Andr{\'e} Reis and Peter Meinecke and Hennekam, {Raoul C M} and Martin Zenker",
note = "{\textcopyright} 2014 WILEY PERIODICALS, INC.",
year = "2014",
month = sep,
doi = "10.1002/humu.22603",
language = "English",
volume = "35",
pages = "1092--100",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "9",

}

RIS

TY - JOUR

T1 - 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

AU - Schanze, Denny

AU - Neubauer, Dorothée

AU - Cormier-Daire, Valerie

AU - Delrue, Marie-Ange

AU - Dieux-Coeslier, Anne

AU - Hasegawa, Tomonobu

AU - Holmberg, Eva E

AU - Koenig, Rainer

AU - Krueger, Gabriele

AU - Schanze, Ina

AU - Seemanova, Eva

AU - Shaw, Adam C

AU - Vogt, Julie

AU - Volleth, Marianne

AU - Reis, André

AU - Meinecke, Peter

AU - Hennekam, Raoul C M

AU - Zenker, Martin

N1 - © 2014 WILEY PERIODICALS, INC.

PY - 2014/9

Y1 - 2014/9

N2 - Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the cause of MSS. In our study cohort of 17 patients with a clinical diagnosis of MSS, conventional sequencing of NFIX revealed frameshift and splice-site mutations in 10 individuals. Using multiplex ligation-dependent probe amplification analysis, we identified a recurrent deletion of NFIX exon 6 and 7 in five individuals. We demonstrate this recurrent deletion is the product of a recombination between AluY elements located in intron 5 and 7. Two other patients had smaller deletions affecting exon 6. These findings show that MSS is a genetically homogeneous Mendelian disorder. RT-PCR experiments with newly identified NFIX mutations including the recurrent exon 6 and 7 deletion confirmed previous findings indicating that MSS-associated mutant mRNAs are not cleared by nonsense-mediated mRNA decay. Predicted MSS-associated mutant NFIX proteins consistently have a preserved DNA binding and dimerization domain, whereas they grossly vary in their C-terminal portion. This is in line with the hypothesis that MSS-associated mutations encode dysfunctional proteins that act in a dominant negative manner.

AB - Marshall-Smith syndrome (MSS) is a very rare malformation syndrome characterized by typical craniofacial anomalies, abnormal osseous maturation, developmental delay, failure to thrive, and respiratory difficulties. Mutations in the nuclear factor 1/X gene (NFIX) were recently identified as the cause of MSS. In our study cohort of 17 patients with a clinical diagnosis of MSS, conventional sequencing of NFIX revealed frameshift and splice-site mutations in 10 individuals. Using multiplex ligation-dependent probe amplification analysis, we identified a recurrent deletion of NFIX exon 6 and 7 in five individuals. We demonstrate this recurrent deletion is the product of a recombination between AluY elements located in intron 5 and 7. Two other patients had smaller deletions affecting exon 6. These findings show that MSS is a genetically homogeneous Mendelian disorder. RT-PCR experiments with newly identified NFIX mutations including the recurrent exon 6 and 7 deletion confirmed previous findings indicating that MSS-associated mutant mRNAs are not cleared by nonsense-mediated mRNA decay. Predicted MSS-associated mutant NFIX proteins consistently have a preserved DNA binding and dimerization domain, whereas they grossly vary in their C-terminal portion. This is in line with the hypothesis that MSS-associated mutations encode dysfunctional proteins that act in a dominant negative manner.

KW - Abnormalities, Multiple

KW - Adolescent

KW - Adult

KW - Alu Elements

KW - Bone Diseases, Developmental

KW - Child

KW - Child, Preschool

KW - Chromosome Breakpoints

KW - Craniofacial Abnormalities

KW - DNA Mutational Analysis

KW - Exons

KW - Facies

KW - Female

KW - Gene Expression

KW - Genetic Loci

KW - Humans

KW - Infant

KW - Male

KW - Mutation

KW - NFI Transcription Factors

KW - Phenotype

KW - RNA, Messenger

KW - Septo-Optic Dysplasia

KW - Sequence Deletion

KW - Young Adult

U2 - 10.1002/humu.22603

DO - 10.1002/humu.22603

M3 - SCORING: Journal article

C2 - 24924640

VL - 35

SP - 1092

EP - 1100

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 9

ER -