Abstract
We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.
| Original language | English |
|---|---|
| Pages (from-to) | 36-38 |
| Number of pages | 3 |
| Journal | European Journal of Medical Genetics |
| Volume | 56 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 2013 |
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Keywords
- Brain anomaly
- Osteopetrosis
- Recessive
ASJC Scopus subject areas
- Genetics
- Genetics(clinical)
Cite this
Association of severe autosomal recessive osteopetrosis and structural brain abnormalities : A case report and review of the literature. / Stark, Zornitza; Pangrazio, Alessandra; McGillivray, George; Fink, A. Michelle.
In: European Journal of Medical Genetics, Vol. 56, No. 1, 01.2013, p. 36-38.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Association of severe autosomal recessive osteopetrosis and structural brain abnormalities
T2 - A case report and review of the literature
AU - Stark, Zornitza
AU - Pangrazio, Alessandra
AU - McGillivray, George
AU - Fink, A. Michelle
PY - 2013/1
Y1 - 2013/1
N2 - We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.
AB - We describe a fetus with severe osteopetrosis diagnosed on post-mortem radiographs following termination of pregnancy at 29 weeks for major brain malformations detected on ultrasound. SNP microarray confirmed loss of heterozygosity in 5% of the genome, consistent with parental consanguinity. Sequencing of the genes known to cause severe recessive osteopetrosis, TCIRG1, CLCN7, OSTM1 and SNX10, was negative. Brain malformations are not typically considered part of the phenotypic spectrum of osteopetrosis. We review the literature, and propose that this may represent a novel autosomal recessive variant of osteopetrosis.
KW - Brain anomaly
KW - Osteopetrosis
KW - Recessive
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UR - http://www.scopus.com/inward/citedby.url?scp=84871695145&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2012.10.001
DO - 10.1016/j.ejmg.2012.10.001
M3 - Article
VL - 56
SP - 36
EP - 38
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
SN - 1769-7212
IS - 1
ER -