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Can I read Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene on EtoBox?
Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene by Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux is a Biochemistry, Genetics and Molecular Biology article available to read on EtoBox.
What is Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene about?
Cornelia de Lange syndrome (CdLS; also called Brachmann de Lange syndrome) is a developmental disorder characterized by typical facial dysmorphism, growth and mental retardation, microcephaly, and various malformations. Mutations in the NIPBL gene have been identified in approximately 40% of reported cases, suggesting either genetic heterogeneity or that some NIPBL mutations are not detected by current screening strategies. We screened a cohort of 21 patients with no previously identified NIPBL anomaly for mutations in the 5' untranslated region (5'UTR) and the proximal promoter of the NIPBL gene. We identified a heterozygous deletion-insertion mutation in exon 1, 321 nucleotides upstream of the translation initiation codon (c.-321\_-320delCCinsA) in one affected girl and her mildly affected father. This mutation altered highly conserved nucleotides, was not found in 400 control alleles, arose de novo in the father, and cosegregated with the disease in the family. Using real-time quantitative PCR, we showed that NIPBL mRNA expression was lowered in patients' lymphocytes compared to control samples. Finally, we showed that, when subcloned into a luciferase reporter vector, the mutat
Who reads Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene?
It is typically read by researchers, students, and practitioners in Biochemistry, Genetics and Molecular Biology.
- Author
- Guntram Borck; Mohamed Zarhrate; Céline Cluzeau; Elodie Bal; Jean-Paul Bonnefont; Arnold Munnich; Valérie Cormier-Daire; Laurence Colleaux
- Publisher
- Hindawi Limited
- Published
- 2006
- Language
- EN
- Field
- Biochemistry, Genetics and Molecular Biology (Life Sciences)