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Jan C Oosterwijk - One of the best experts on this subject based on the ideXlab platform.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3β hydroxysterol δ14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3 beta hydroxysterol delta 14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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Autosomal recessive HEM/greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol Delta(14)-reductase deficiency due to mutations in the lamin B receptor gene
'University of Chicago Press', 2003Co-Authors: Hr Waterham, Koster Janet, Mooyer P, Van Noort G, Ri Kelley, Wr Wilcox, Hennekam Rcm, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-"moth-eaten" ( HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3beta-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3beta-hydroxysterol Delta(14)-reductase. Sequence analysis of two candidate genes encoding putative human sterol Delta(14)-reductases (TM7SF2 and LBR) identified a homozygous 1599-1605TCTTCTA-->CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Delta(14)-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3beta-hydroxysterol Delta(14)-reductase deficiency
Hans R Waterham - One of the best experts on this subject based on the ideXlab platform.
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pathologic radiographic and molecular findings in three fetuses diagnosed with hem greenberg skeletal dysplasia
Prenatal Diagnosis, 2008Co-Authors: Anastasia E Konstantinidou, Charalampos Karadimas, Hans R Waterham, Andrea Supertifurga, P Kaminopetros, Maria Grigoriadou, Haris Kokotas, George Agrogiannis, Aglaia Giannouliakarantana, Efstratios PatsourisAbstract:Background Greenberg skeletal dysplasia is a very rare, autosomal recessive, in utero, lethal Chondrodystrophy for which only eight index cases of diverse ethnic origin have been reported so far. The defect is associated with a defect in cholesterol biosynthesis and due to mutations in the gene encoding the lamin B receptor (LBR). Methods A familial case of three fetuses of a consanguineous Greek couple is presented including prenatal, physical, radiographic, histopathologic, and molecular genetic findings. Results The tentative diagnosis of Greenberg skeletal dysplasia based on pathological findings was confirmed by the identification of a homozygous, N547D amino acid substitution in the LBR gene in the third affected fetus. Conclusion The present case represents the ninth described case of Greenberg dysplasia and the second case of Greek origin. The characteristic ‘moth-eaten’ radiographic appearance is already seen at 13 weeks' gestational age. Copyright © 2008 John Wiley & Sons, Ltd.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3β hydroxysterol δ14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3 beta hydroxysterol delta 14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
Gerard Van Noort - One of the best experts on this subject based on the ideXlab platform.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3β hydroxysterol δ14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3 beta hydroxysterol delta 14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
Petra A W Mooyer - One of the best experts on this subject based on the ideXlab platform.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3β hydroxysterol δ14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3 beta hydroxysterol delta 14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
Janet Koster - One of the best experts on this subject based on the ideXlab platform.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3β hydroxysterol δ14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.
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autosomal recessive hem greenberg skeletal dysplasia is caused by 3 beta hydroxysterol delta 14 reductase deficiency due to mutations in the lamin b receptor gene
American Journal of Human Genetics, 2003Co-Authors: Hans R Waterham, Janet Koster, Petra A W Mooyer, Gerard Van Noort, Richard I Kelley, William R Wilcox, Ronald J A Wanders, C Raoul M Hennekam, Jan C OosterwijkAbstract:Hydrops-ectopic calcification-“moth-eaten” (HEM) or Greenberg skeletal dysplasia is an autosomal recessive Chondrodystrophy with a lethal course, characterized by fetal hydrops, short limbs, and abnormal chondro-osseous calcification. We found elevated levels of cholesta-8,14-dien-3β-ol in cultured skin fibroblasts of an 18-wk-old fetus with HEM, compatible with a deficiency of the cholesterol biosynthetic enzyme 3β-hydroxysterol Δ14-reductase. Sequence analysis of two candidate genes encoding putative human sterol Δ14-reductases (TM7SF2 and LBR) identified a homozygous 1599–1605TCTTCTA→CTAGAAG substitution in exon 13 of the LBR gene encoding the lamin B receptor, which results in a truncated protein. Functional complementation of the HEM cells by transfection with control LBR cDNA confirmed that LBR encoded the defective sterol Δ14-reductase. Mutations in LBR recently have been reported also to cause Pelger-Huet anomaly, an autosomal dominant trait characterized by hypolobulated nuclei and abnormal chromatin structure in granulocytes. The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huet anomaly represents the heterozygous state of 3β-hydroxysterol Δ14-reductase deficiency.