Presentation is loading. Please wait.

Presentation is loading. Please wait.

Cantú Syndrome Is Caused by Mutations in ABCC9

Published byJustus Klein Modified over 5 years ago

Similar presentations

Presentation on theme: "Cantú Syndrome Is Caused by Mutations in ABCC9"— Presentation transcript:

1 Cantú Syndrome Is Caused by Mutations in ABCC9
Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange, Raoul C.M. Hennekam, Hülya Kayserili, Hartmut Engels, Heiko Reutter, John R. Ostergaard, Eva Morava, Konstantinos Tsiakas, Bertrand Isidor, Martine Le Merrer, Metin Eser, Nienke Wieskamp, Petra de Vries, Marloes Steehouwer, Joris A. Veltman, Stephen P. Robertson, Han G. Brunner, Bert B.A. de Vries, Alexander Hoischen  The American Journal of Human Genetics  Volume 90, Issue 6, Pages (June 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Mutations in ABCC9 Cause Cantú Syndorme
(A) Portrait photographs of Cantú syndrome individuals with ABCC9 mutations, identified by exome sequencing or Sanger sequencing. Note the coarse facial appearance, including a broad nasal bridge, a short nose, a long philtrum, a wide mouth, and full lips. (B) De novo ABCC9 mutation g G>A (c.3460C>T; p. Arg1154Trp) identified by exome sequencing of an affected individual and his parents. The upper panel shows the next generation sequencing reads of the child (individual 1) followed by the reads of the father (middle) and mother (bottom). (C) Sanger validation in the same trio; Sanger traces of the child (individual 1, top), father (middle), and mother (bottom). The point mutation (g G>A; c.3460C>T) is marked with a red arrow. (D) Schematic overview of SUR2, with Cantú syndrome-causing mutations depicted by the arrow. Abbreviations: ABC, ATP-binding cassette transporter domain (red); TMD, ABC transmembrane domain type-1 (blue). (E) Amino-acid conservation of the mutation hot spot p.Arg1154 for multiple species (human, mouse, dog, chicken, zebrafish); the highly conserved arginine is depicted in red. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Download ppt "Cantú Syndrome Is Caused by Mutations in ABCC9"

Similar presentations

Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg,

Mutations in MED12 Cause X-Linked Ohdo Syndrome Anneke T. Vulto-van Silfhout, Bert B.A. de Vries, Bregje W.M. van Bon, Alexander Hoischen, Martina Ruiterkamp-Versteeg,
Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout,

Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual Disability with Severe Speech Impairment and Behavioral Problems Anneke T. Vulto-van Silfhout,
Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee,

Noninvasive Test for Fragile X Syndrome, Using Hair Root Analysis Rob Willemsen, Burcu Anar, Yolanda De Diego Otero, Bert B.A. de Vries, Yvonne Hilhorst-Hofstee,
Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.

Previous Estimates of Mitochondrial DNA Mutation Level Variance Did Not Account for Sampling Error: Comparing the mtDNA Genetic Bottleneck in Mice and.
Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.

Connexin Mutations in Skin Disease and Hearing Loss David P. Kelsell, Wei-Li Di, Mark J. Houseman The American Journal of Human Genetics Volume 68, Issue.
Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.

Functional Analysis of the Neurofibromatosis Type 2 Protein by Means of Disease- Causing Point Mutations Renee P. Stokowski, David R. Cox The American.
Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome  Janneke H.M.

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome  Janneke H.M.
The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1  Dan Hanson, Philip G. Murray, Amit Sud, Samia A.

The Primordial Growth Disorder 3-M Syndrome Connects Ubiquitination to the Cytoskeletal Adaptor OBSL1  Dan Hanson, Philip G. Murray, Amit Sud, Samia A.
A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus 

A Mutation in the 5′-UTR of IFITM5 Creates an In-Frame Start Codon and Causes Autosomal-Dominant Osteogenesis Imperfecta Type V with Hyperplastic Callus 
Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)

Figure 2 Sanger sequencing, conservation, and summary of known ACO2 mutations Sanger sequencing, conservation, and summary of known ACO2 mutations (A)
Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients

Recurrent CNVs Disrupt Three Candidate Genes in Schizophrenia Patients
Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E

Ilse Feenstra, Lisenka E. L. M. Vissers, Ronald J. E
SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome  Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome  Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,
NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability

NR2F1 Mutations Cause Optic Atrophy with Intellectual Disability
A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease 

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease 
Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis- Associated Mutations throughout Adult Life  Rocio Acuna-Hidalgo, Hilal Sengul,

Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis- Associated Mutations throughout Adult Life  Rocio Acuna-Hidalgo, Hilal Sengul,
Exome Sequencing in Brown-Vialetto-Van Laere Syndrome

Exome Sequencing in Brown-Vialetto-Van Laere Syndrome
Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis  Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.

Exome Sequencing Identifies PDE4D Mutations as Another Cause of Acrodysostosis  Caroline Michot, Carine Le Goff, Alice Goldenberg, Avinash Abhyankar, Céline.
Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation  Birgitt Schüle, Angelica Oviedo, Kathreen.

Inactivating Mutations in ESCO2 Cause SC Phocomelia and Roberts Syndrome: No Phenotype-Genotype Correlation  Birgitt Schüle, Angelica Oviedo, Kathreen.
2012 Curt Stern Award Address1

2012 Curt Stern Award Address1

Similar presentations

Ads by Google