Abstract
Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
| Original language | English |
|---|---|
| Pages (from-to) | 319-325 |
| Number of pages | 7 |
| Journal | Fetal and Pediatric Pathology |
| Volume | 32 |
| Issue number | 5 |
| DOIs | |
| State | Published - Oct 1 2013 |
Fingerprint
Keywords
- Autosomal recessive
- LEPRE 1 gene
- Osteogenesis imperfecta
- Perinatal form
- Skeletal dysplasia
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Pediatrics, Perinatology, and Child Health
Cite this
Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene. / Moul, Adrienne; Alladin, Amanda; Navarrete, Cristina; Abdenour, George; Rodriguez, Maria.
In: Fetal and Pediatric Pathology, Vol. 32, No. 5, 01.10.2013, p. 319-325.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Osteogenesis imperfecta due to compound heterozygosity for the LEPRE1 gene
AU - Moul, Adrienne
AU - Alladin, Amanda
AU - Navarrete, Cristina
AU - Abdenour, George
AU - Rodriguez, Maria
PY - 2013/10/1
Y1 - 2013/10/1
N2 - Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
AB - Osteogenesis imperfecta is a rare connective tissue disorder characterized by bone fragility and low bone density. Most cases are caused by an autosomal dominant mutation in either COL1A1 or COL1A2 gene encoding type I collagen. However, autosomal recessive forms have been identified. We present a patient with severe respiratory distress due to osteogenesis imperfecta simulating type II, born to a non-consanguineous couple with mixed African-American and African-Hispanic ethnicity. Cultured skin fibroblasts demonstrated compound heterozygosity for mutations in the LEPRE1 gene encoding prolyl 3-hydroxylase 1 confirming the diagnosis of autosomal recessive osteogenesis imperfecta type VIII, perinatal lethal type.
KW - Autosomal recessive
KW - LEPRE 1 gene
KW - Osteogenesis imperfecta
KW - Perinatal form
KW - Skeletal dysplasia
UR - http://www.scopus.com/inward/record.url?scp=84882990190&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84882990190&partnerID=8YFLogxK
U2 - 10.3109/15513815.2012.754528
DO - 10.3109/15513815.2012.754528
M3 - Article
C2 - 23301918
AN - SCOPUS:84882990190
VL - 32
SP - 319
EP - 325
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
SN - 1551-3815
IS - 5
ER -