Infantile cortical hyperostosis and COL1A1 mutation in four generations

Paola Cerruti-Mainardi, Giacomo Venturi, Marianna Spunton, Elena Favaron, Michela Zignani, Sandro Provera, Bruno Dallapiccola

Research output: Contribution to journalArticle

13 Citations (Scopus)

Abstract

Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability.

Original languageEnglish
Pages (from-to)1385-1390
Number of pages6
JournalEuropean Journal of Pediatrics
Volume170
Issue number11
DOIs
Publication statusPublished - Nov 2011

Fingerprint

Cortical Congenital Hyperostosis
Mutation
Genetic Databases
Inheritance Patterns
Clavicle
Ribs
Mandible
X-Rays
Bone and Bones
Genes

Keywords

  • Autosomal dominant pattern
  • COL1A1 gene
  • Neonatal and infantile familial disease
  • Spontaneous recovery

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Cerruti-Mainardi, P., Venturi, G., Spunton, M., Favaron, E., Zignani, M., Provera, S., & Dallapiccola, B. (2011). Infantile cortical hyperostosis and COL1A1 mutation in four generations. European Journal of Pediatrics, 170(11), 1385-1390. https://doi.org/10.1007/s00431-011-1463-0

Infantile cortical hyperostosis and COL1A1 mutation in four generations. / Cerruti-Mainardi, Paola; Venturi, Giacomo; Spunton, Marianna; Favaron, Elena; Zignani, Michela; Provera, Sandro; Dallapiccola, Bruno.

In: European Journal of Pediatrics, Vol. 170, No. 11, 11.2011, p. 1385-1390.

Research output: Contribution to journalArticle

Cerruti-Mainardi, P, Venturi, G, Spunton, M, Favaron, E, Zignani, M, Provera, S & Dallapiccola, B 2011, 'Infantile cortical hyperostosis and COL1A1 mutation in four generations', European Journal of Pediatrics, vol. 170, no. 11, pp. 1385-1390. https://doi.org/10.1007/s00431-011-1463-0
Cerruti-Mainardi P, Venturi G, Spunton M, Favaron E, Zignani M, Provera S et al. Infantile cortical hyperostosis and COL1A1 mutation in four generations. European Journal of Pediatrics. 2011 Nov;170(11):1385-1390. https://doi.org/10.1007/s00431-011-1463-0
Cerruti-Mainardi, Paola ; Venturi, Giacomo ; Spunton, Marianna ; Favaron, Elena ; Zignani, Michela ; Provera, Sandro ; Dallapiccola, Bruno. / Infantile cortical hyperostosis and COL1A1 mutation in four generations. In: European Journal of Pediatrics. 2011 ; Vol. 170, No. 11. pp. 1385-1390.
@article{15f05c6d40d348a98a4d055f3fdef0c4,
title = "Infantile cortical hyperostosis and COL1A1 mutation in four generations",
abstract = "Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability.",
keywords = "Autosomal dominant pattern, COL1A1 gene, Neonatal and infantile familial disease, Spontaneous recovery",
author = "Paola Cerruti-Mainardi and Giacomo Venturi and Marianna Spunton and Elena Favaron and Michela Zignani and Sandro Provera and Bruno Dallapiccola",
year = "2011",
month = "11",
doi = "10.1007/s00431-011-1463-0",
language = "English",
volume = "170",
pages = "1385--1390",
journal = "European Journal of Pediatrics",
issn = "0340-6199",
publisher = "Springer Berlin Heidelberg",
number = "11",

}

TY - JOUR

T1 - Infantile cortical hyperostosis and COL1A1 mutation in four generations

AU - Cerruti-Mainardi, Paola

AU - Venturi, Giacomo

AU - Spunton, Marianna

AU - Favaron, Elena

AU - Zignani, Michela

AU - Provera, Sandro

AU - Dallapiccola, Bruno

PY - 2011/11

Y1 - 2011/11

N2 - Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability.

AB - Infantile cortical hyperostosis (ICH, OMIM 114000) is a rare familial disorder which affects infants. It spontaneously heals in the first years of life. The disease is characterized by regressive subperiosteal hyperosteogenesis mainly affecting long bones, mandible, clavicles, and ribs which are remarkably swollen and deformed on X-rays. But it is also important to take into consideration the autosomal dominant pattern of inheritance to detect it. In 2005 Gensure et al. detected 3040C→T mutation in COL1A1 gene in three unrelated ICH families. Four generations of patients belonging to the same family were examined in our study. Molecular testing has now disclosed a pathogenic mutation in nine of them. The patients spontaneously recovered. Although our paper shows a distinct correlation between R836C mutation and ICH, there is a certain interindividual and intra-familial variability.

KW - Autosomal dominant pattern

KW - COL1A1 gene

KW - Neonatal and infantile familial disease

KW - Spontaneous recovery

UR - http://www.scopus.com/inward/record.url?scp=82655172613&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=82655172613&partnerID=8YFLogxK

U2 - 10.1007/s00431-011-1463-0

DO - 10.1007/s00431-011-1463-0

M3 - Article

C2 - 21567126

AN - SCOPUS:82655172613

VL - 170

SP - 1385

EP - 1390

JO - European Journal of Pediatrics

JF - European Journal of Pediatrics

SN - 0340-6199

IS - 11

ER -