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 language | English |
|---|---|
| Pages (from-to) | 1385-1390 |
| Number of pages | 6 |
| Journal | European Journal of Pediatrics |
| Volume | 170 |
| Issue number | 11 |
| DOIs | |
| Publication status | Published - Nov 2011 |
Fingerprint
Keywords
- Autosomal dominant pattern
- COL1A1 gene
- Neonatal and infantile familial disease
- Spontaneous recovery
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
Cite this
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 journal › Article
}
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 -