TY - JOUR
T1 - Novel deletion of SERPINF1 causes autosomal recessive osteogenesis imperfecta type VI in two Brazilian families
AU - Minillo, Renata Moldenhauer
AU - Sobreira, Nara
AU - De Fatima De Faria Soares, Maria
AU - Jurgens, Julie
AU - Ling, Hua
AU - Hetrick, Kurt N.
AU - Doheny, Kimberly F.
AU - Valle, David
AU - Brunoni, Decio
AU - Perez, Ana B.Alvarez
N1 - Publisher Copyright:
© 2014 S. Karger AG, Basel.
PY - 2014/12/25
Y1 - 2014/12/25
N2 - Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.
AB - Autosomal recessive osteogenesis imperfecta (OI) accounts for 10% of all OI cases, and, currently, mutations in 10 genes (CRTAP, LEPRE1, PPIB, SERPINH1, FKBP10, SERPINF1, SP7, BMP1, TMEM38B, and WNT1) are known to be responsible for this form of the disease. PEDF is a secreted glycoprotein of the serpin superfamily that maintains bone homeostasis and regulates osteoid mineralization, and it is encoded by SERPINF1, currently associated with OI type VI (MIM 172860). Here, we report a consanguineous Brazilian family in which multiple individuals from at least 4 generations are affected with a severe form of OI, and we also report an unrelated individual from the same small city in Brazil with a similar but more severe phenotype. In both families the same homozygous SERPINF1 19-bp deletion was identified which is not known in the literature yet. We described intra- and interfamilial clinical and radiological phenotypic variability of OI type VI caused by the same homozygous SERPINF1 19-bp deletion and suggest a founder effect. Furthermore, the SERPINF1 genotypes/phenotypes reported so far in the literature are reviewed.
KW - Autosomal recessive
KW - Osteogenesis imperfecta type VI
KW - SERPINF1
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U2 - 10.1159/000369108
DO - 10.1159/000369108
M3 - Article
C2 - 25565926
AN - SCOPUS:84919816316
SN - 1661-8769
VL - 5
SP - 268
EP - 275
JO - Molecular Syndromology
JF - Molecular Syndromology
IS - 6
ER -