A.b. c. figure s1 The arrows point to the index patients. a., b. and c. are case one to three, respectively. g.w.= gestational week s.a. = spontaneos abortion.

Slides:

Advertisements

Similar presentations

Genes and mutations. What are genes? A molecular unit of heredity The name for stretches of DNA and RNA that code for a specific protein (which has a.

Advertisements

Comparison of p53 Structure: Wild type vs. mutant What change in wild type p53 may lead to cancer?

Genes in Action Chapter 14. Sex Linked Traits Another way for traits to be passed on is by being sex linked Female Chromosomes: XX Male Chromosomes: Xy.

Unit 6 Notes: Mutations. DNA Mutations Mutations: Any change in the sequence of nitrogenous bases of DNA. Causes: – Mutagens = factors that change chemical.

A change in the nucleotide sequence of DNA Ultimate source of genetic diversity Gene vs. Chromosome.

MdSFBB3-alpha MSHVRESETPEDRVVEILSRLPPKSLMRFKCIHKSWFSLINNLSFVAKHLSNSVDNKLSSSTCILLNRSQAHIFPDQSWKQEVFWSMINFSIDSDENNLHYDVEDLN-IP 109 MdSFBB3-beta MSQVHESETPEDKVVEILCRLPPKSLMRFKCIRKSWCTLINRPSFVAKHLNNSVDNKLSSSTCILLNRSQAHIFPDQSWKQEVFWSTINLSIDSDEHNLHYDVEDLI-IP.

Gene Mutations.

Types of Mutations.

Biology of Blood and Marrow Transplantation

Yes, Patient #1 Yes, Patient #3 EGFR sequencing chromatograms

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Volume 126, Issue 1, Pages (January 2004)

Identification of a Frameshift Mutation in Osterix in a Patient with Recessive Osteogenesis Imperfecta Pablo Lapunzina, Mona Aglan, Samia Temtamy, José.

Cystic fibrosis: A new mutation in the Lebanese population

Entry Task Apply: Suppose a template strand of DNA had the following sequence: DNA: T A C G G A T A A C T A C C G G G T A T T C A A What would.

Entry Task Apply: Suppose a template strand of DNA had the following wild-type gene sequence: DNA: T A C G G A T A A C T A C C G G G T A T T C.

Herlitz Junctional Epidermolysis Bullosa: Novel and Recurrent Mutations in the LAMB3 Gene and the Population Carrier Frequency Aoi Nakano, Ellen Pfendner,

Figure Cerebral MRI and molecular and enzymatic analysis

Familial Deafness, Congenital Heart Defects, and Posterior Embryotoxon Caused by Cysteine Substitution in the First Epidermal-Growth-Factor–Like Domain.

A Clinical Grade Sequencing-Based Assay for CEBPA Mutation Testing

Mutations in the Liver Glycogen Phosphorylase Gene (PYGL) Underlying Glycogenosis Type VI (Hers Disease) Barbara Burwinkel, Henk D. Bakker, Eliezer Herschkovitz,

Mutations in the Keratin 85 (KRT85/hHb5) Gene Underlie Pure Hair and Nail Ectodermal Dysplasia Yutaka Shimomura, Muhammad Wajid, Mazen Kurban, Nobuyuki.

Analysis of WNT9B mutations in Chinese women with Mayer–Rokitansky–Küster– Hauser syndrome Man Wang, Yan Li, Wenqing Ma, Haixia Li, Fuxian He, Demin Pu,

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando G.

Figure 1. Generation of the S250F Aadc mutant mice

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

Volume 54, Issue 3, Pages (September 1998)

Volume 54, Issue 3, Pages (September 1998)

Germline BHD-Mutation Spectrum and Phenotype Analysis of a Large Cohort of Families with Birt-Hogg-Dubé Syndrome Laura S. Schmidt, Michael L. Nickerson,

Rapid Decoding of Sequence-Specific Nuclease-Induced Heterozygous and Biallelic Mutations by Direct Sequencing of PCR Products Xingliang Ma, Letian Chen,

Peter Ianakiev, Michael W

Genetic Heterogeneity in Erythrokeratodermia Variabilis: Novel Mutations in the Connexin Gene GJB4 (Cx30.3) and Genotype-Phenotype Correlations Gabriele.

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome Wen-Bin He, Juan Du, Xiao-Wen Yang,

Iris Schrijver, Tiffanee J. Lenzi, Carol D. Jones, Marla J

Laminin-5 Mutational Analysis in an Italian Cohort of Patients with Junctional Epidermolysis Bullosa Patrizia Posteraro, Naomi De Luca, Guerrino Meneguzzi,

Semidominant Inheritance in Epidermolytic Ichthyosis

Targeted disruption of the mouse Pex14 gene.

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy Lieve Claes, Jurgen Del-Favero, Berten Ceulemans, Lieven.

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Human Elastase 1: Evidence for Expression in the Skin and the Identification of a Frequent Frameshift Polymorphism Ulvi Talas, John Dunlop, Sahera Khalaf,

Mutation Notes.

A Platform for Rapid Detection of Multiple Oncogenic Mutations With Relevance to Targeted Therapy in Non–Small-Cell Lung Cancer Zengliu Su, Dora Dias-Santagata,

Olivier Rosmorduc, Raoul Poupon Gastroenterology

Opitz G/BBB Syndrome in Xp22: Mutations in the MID1 Gene Cluster in the Carboxy- Terminal Domain Karin Gaudenz, Erich Roessler, Nandita Quaderi, Brunella.

Maternal Transmission of the 3 bp Deletion within Exon 7 of the STS Gene in Steroid Sulfatase Deficiency Margarita Valdes-Flores Journal of Investigative.

A B C D G G/A Figure 1. Sequencing reveals mosaicism for point mutation. A. Sequencing shows a homozygous c.862 G>A mutation in the DNA from tumor of unilaterally.

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore

The Gene Mutated in Variant Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN6) and in nclf Mutant Mice Encodes a Novel Predicted Transmembrane Protein

A T G A G A T A A T T T A A G A B C Figure 1. Sequencing reveals mosaicism for point mutation. (A) Sequence of tumor DNA (A)

Mental Retardation and Abnormal Skeletal Development (Dyggve-Melchior-Clausen Dysplasia) Due to Mutations in a Novel, Evolutionarily Conserved Gene Daniel.

Figure 1 Pedigree and genetic findings

Won–Seok Jo, Prathap Bandipalliam, Kristen M. Shannon, Kristin B

A T G A G A T A A T T T A A G A B C Figure 1. Sequencing reveals mosaicism for point mutation. (A) Sequence of tumor DNA (A)

A T G A G A T A A T T T A A G A B C Figure 1. Sequencing reveals mosaicism for point mutation. (A) Sequence of tumor DNA (A)

Cloning and mapping of zebrafish nls/raldh2.

A T G A G A T A A T T T A A G A B C Figure 1. Sequencing reveals mosaicism for point mutation. (A) Sequence of tumor DNA (A)

A T G A G A T A A T T T A A G A B C Figure 1. Sequencing reveals mosaicism for point mutation. (A) Sequence of tumor DNA (A)

Two Exon-Skipping Mutations as the Molecular Basis of Succinic Semialdehyde Dehydrogenase Deficiency (4-Hydroxybutyric Aciduria) Ken L. Chambliss, Debra.

Figure 1. Pedigree and clinical picture of the patient

A B C D G G/A Figure 1. Sequencing reveals mosaicism for point mutation. A, B. Sequencing analysis for tumor DNA (A) and blood DNA (B) showed a homozygous.

Figure 2 Compound heterozygous mutations in ADAM22

A Missense Mutation in a Highly Conserved Region of CASQ2 Is Associated with Autosomal Recessive Catecholamine-Induced Polymorphic Ventricular Tachycardia.

Volume 113, Issue 4, Pages (May 2003)

Representative examples of estrogen receptor α and β immunohistochemical expression (top figures) and EGFR mutations (bottom figures) in lung adenocarcinomas.

Epigenetic Allele Silencing Unveils Recessive RYR1 Mutations in Core Myopathies Haiyan Zhou, Martin Brockington, Heinz Jungbluth, David Monk, Philip Stanier,

KIT mutations in GISTs. A, amino acid sequence of KIT exon 11 mutations in clinical GIST biopsies. –, amino acids that are deleted; italicized amino acids,

Homozygous WNT3 Mutation Causes Tetra-Amelia in a Large Consanguineous Family Stephan Niemann, Chengfeng Zhao, Filon Pascu, Ulrich Stahl, Ute Aulepp,

Presentation transcript:

a.b. c. figure s1 The arrows point to the index patients. a., b. and c. are case one to three, respectively. g.w.= gestational week s.a. = spontaneos abortion i.a. = induced abortion

A B C figure s2: X-ray of the spine showing sagittal clefts of vertebral bodies in case 1 (A) and 2 (B) and more defective ossification in case 3 (C).

Supplementary figure 3. a.Sequencing Chromatogram of exon 2 of CANT1-gene of the patient. The arrow points to the homozygous missense mutation. In capital on the top is the corresponding amino acids' sequence (in red is the changed amino acid). b. Sequence of a control DNA. The arrow points to the wild type cytosine. c. multiple alignment of the corresponding sequence containing the relevant aspartic acid at position 367 that show its very high conservation up to vegetable organisms. actgaaaatcccggg (a.) (b). IAELD IADLD actgaaacccggg c actacg IAELD IADLD t (c).

forwardreverse fetus father mother fetus control parents Supplementary figure 4. Sequencing Chromatogram of exon 2 of CANT1-gene of the fetus 2 and its parents. The sequence of the fetus shows a frameshift. The comparison with the DNA of the parents unveiled the presence of two overlapping frameshift causing mutations in the same exon: the c.277_278delCT and the c.228_229insC. Both mutations were then amplified from the fetal DNA separately without interference using tailored PCRs and confirmed by sequencing. Supplementary figure 5. Sequencing Chromatogram of exon 2 of CANT1-gene of the fetus 3 with the c.228_229insC mutation, control and parents. The chromatogram of the fetus shows a homozygous insertion of a cytosin in comparison to the control sequence. Both parents are heterozygous carriers of the corresponding mutation.