Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review

E. Agolini, M. L. Dentici, E. Bellacchio, V. Alesi, F. C. Radio, A. Torella, F. Musacchia, M. Tartaglia, B. Dallapiccola, V. Nigro, M. C. Digilio, A. Novelli

Research output: Contribution to journalArticle

9 Citations (Scopus)

Abstract

Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.

Original languageEnglish
JournalClinical Genetics
DOIs
Publication statusE-pub ahead of print - Sep 13 2017

Fingerprint

Protein-Arginine N-Methyltransferases
Brachydactyly
Intellectual Disability
Mutation
Arginine
Exome
Biological Phenomena
Developmental Disabilities
Protein Transport
DNA Repair
Methionine
Methylation
Signal Transduction
Seizures
Nitrogen
Phenotype
Messenger RNA
Enzymes
Genes

Keywords

  • Brachydactyly
  • Intellectual disability
  • Late onset obesity
  • PRMT7
  • SBIDDS
  • Seizures
  • Short stature

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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title = "Expanding the clinical and molecular spectrum of PRMT7 mutations: 3 additional patients and review",
abstract = "Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.",
keywords = "Brachydactyly, Intellectual disability, Late onset obesity, PRMT7, SBIDDS, Seizures, Short stature",
author = "E. Agolini and Dentici, {M. L.} and E. Bellacchio and V. Alesi and Radio, {F. C.} and A. Torella and F. Musacchia and M. Tartaglia and B. Dallapiccola and V. Nigro and Digilio, {M. C.} and A. Novelli",
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AU - Agolini, E.

AU - Dentici, M. L.

AU - Bellacchio, E.

AU - Alesi, V.

AU - Radio, F. C.

AU - Torella, A.

AU - Musacchia, F.

AU - Tartaglia, M.

AU - Dallapiccola, B.

AU - Nigro, V.

AU - Digilio, M. C.

AU - Novelli, A.

PY - 2017/9/13

Y1 - 2017/9/13

N2 - Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.

AB - Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, 7 patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). We report on 3 additional patients from 2 consanguineous families with severe/moderate intellectual disability, short stature, brachydactyly and dysmorphisms. Exome sequencing revealed 2 novel homozygous mutations in PRMT7. Our findings expand the clinical and molecular spectrum of homozygous PRMT7 mutations, associated to the SBIDDS syndrome, showing a possible correlation between the type of mutation and the severity of the phenotype.

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KW - Late onset obesity

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KW - SBIDDS

KW - Seizures

KW - Short stature

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