Journal: BMC Medical Genetics

Article Title: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

doi: 10.1186/s12881-016-0364-5

Figure Lengend Snippet: Timeline

Article Snippet: For the study of ABCA4 gene the following techniques were used: a) Genotyping APEX (Arrayed Primer Extension) for ABCA4 gene (Asper biotech, Tartu, Estonia, http://www.asperbio.com/asper-ophthalmics/stargardt-disease-cone-rod-dystrophy-abca4/stargardt-disease-targeted-mutation-analysis ); b) Sanger sequencing of all the coding exons and intronic flanking sequences, and c) MLPA (Multiplex Ligation-dependent Probe Amplification) analysis using a commercial kit (SALSA® MLPA® P151-P152 ABCA4 probemix, MRC-Holland, Amsterdam, the Netherland) to study ABCA4 exonic deletions or duplications. b) And c) where analyzed by capillary electrophoresis ( Abiprism 3130 ; Sequencing Analysis v5.2 ), performed at our Genetics Department, Fundación Jiménez Díaz University Hospital, Madrid) For the study of the CDH3 gene: a Sanger sequencing of all the coding exons and intronic flanking sequences of CDH3 was performed at Imegen (Instituto de Medicina Genómica, Valencia, Spain).

Techniques: ChIP-sequencing, Multiplex Assay, Ligation, Amplification, Biomarker Discovery, Sequencing

Journal: BMC Medical Genetics

Article Title: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

doi: 10.1186/s12881-016-0364-5

Figure Lengend Snippet: Functional prediction of p.Val205Met variant on CDH3 gene. Prediction and score from 12 different predictors

Article Snippet: For the study of ABCA4 gene the following techniques were used: a) Genotyping APEX (Arrayed Primer Extension) for ABCA4 gene (Asper biotech, Tartu, Estonia, http://www.asperbio.com/asper-ophthalmics/stargardt-disease-cone-rod-dystrophy-abca4/stargardt-disease-targeted-mutation-analysis ); b) Sanger sequencing of all the coding exons and intronic flanking sequences, and c) MLPA (Multiplex Ligation-dependent Probe Amplification) analysis using a commercial kit (SALSA® MLPA® P151-P152 ABCA4 probemix, MRC-Holland, Amsterdam, the Netherland) to study ABCA4 exonic deletions or duplications. b) And c) where analyzed by capillary electrophoresis ( Abiprism 3130 ; Sequencing Analysis v5.2 ), performed at our Genetics Department, Fundación Jiménez Díaz University Hospital, Madrid) For the study of the CDH3 gene: a Sanger sequencing of all the coding exons and intronic flanking sequences of CDH3 was performed at Imegen (Instituto de Medicina Genómica, Valencia, Spain).

Techniques: Functional Assay, Variant Assay, Mutagenesis, In Silico

Journal: BMC Medical Genetics

Article Title: New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report

doi: 10.1186/s12881-016-0364-5

Figure Lengend Snippet: Human cadherin 3 protein structure models. Legend: a : Human cadherin 3 protein structure model. The colours (red, orange, yellow green and blue) represent the 5 cadherin domains. The white arrow shows the p.Val205Met mutation position at a calcium-binding domain (grey circles). Image obtained from http://www.proteinmodelportal.org/?pid=modelDetail&provider=SWISSMODEL&template=1l3wA&pmpuid=1000801449293&range_from=1&range_to=829&ref_ac=P22223&mapped_ac=&zid=async (date of access: 04/04/2016). b : Human cadherin 3 protein model highlighting calcium binding sites. The back arrow shows the p.Val205Met mutation position. Image obtained form: http://smart.embl.de/smart/show_motifs.pl?ID=P22223 (date of access: 04/04/2016)

Article Snippet: For the study of ABCA4 gene the following techniques were used: a) Genotyping APEX (Arrayed Primer Extension) for ABCA4 gene (Asper biotech, Tartu, Estonia, http://www.asperbio.com/asper-ophthalmics/stargardt-disease-cone-rod-dystrophy-abca4/stargardt-disease-targeted-mutation-analysis ); b) Sanger sequencing of all the coding exons and intronic flanking sequences, and c) MLPA (Multiplex Ligation-dependent Probe Amplification) analysis using a commercial kit (SALSA® MLPA® P151-P152 ABCA4 probemix, MRC-Holland, Amsterdam, the Netherland) to study ABCA4 exonic deletions or duplications. b) And c) where analyzed by capillary electrophoresis ( Abiprism 3130 ; Sequencing Analysis v5.2 ), performed at our Genetics Department, Fundación Jiménez Díaz University Hospital, Madrid) For the study of the CDH3 gene: a Sanger sequencing of all the coding exons and intronic flanking sequences of CDH3 was performed at Imegen (Instituto de Medicina Genómica, Valencia, Spain).

Techniques: Mutagenesis, Binding Assay