Presentation is loading. Please wait.

Presentation is loading. Please wait.

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome  Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,

Published byMarie-Madeleine Morel Modified over 5 years ago

Similar presentations

Presentation on theme: "SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome  Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,"— Presentation transcript:

1 SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome 
Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure, Egritas Odul, Ersin Sayar, Hilary Smith, Virginie Colomb, Nicolas Andre, Jean-Pierre Hugot, Olivier Goulet, Caroline Lacoste, Jacques Sarles, Julien Royet, Nicolas Levy, Catherine Badens  The American Journal of Human Genetics  Volume 90, Issue 4, Pages (April 2012) DOI: /j.ajhg Copyright © 2012 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical Presentation of Individuals with SD/THE Syndrome and SKIV2L Mutations (A) Clinical presentation of four individuals with SD/THE syndrome. One individual has mutations in TTC37 (first picture on the left), and three others have mutations in SKIV2L (right panel). (B) A schematic overview of the predicted SKIV2L structure with a helicase ATP-binding domain and a helicase C-terminal domain (UniProt). The location of the domains is annotated by amino acid position. The eight amino acid substitutions are indicated by arrows. (C) Nucleotide sequences are shown for the controls (upper sequence) and for each SKIV2L variant (lower sequence). Arrows indicate mutation positions on the reference sequences. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2012 The American Society of Human Genetics Terms and Conditions

Download ppt "SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome  Alexandre Fabre, Bernard Charroux, Christine Martinez-Vinson, Bertrand Roquelaure,"

Similar presentations

Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More.

Proteolipoprotein Gene Analysis in 82 Patients with Sporadic Pelizaeus-Merzbacher Disease: Duplications, the Major Cause of the Disease, Originate More.
Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.

Exome Sequencing and Functional Analysis Identifies BANF1 Mutation as the Cause of a Hereditary Progeroid Syndrome Xose S. Puente, Victor Quesada, Fernando.
Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.

Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome Michel De Vos, Bruce E. Hayward, Susan Picton, Eamonn.
Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.

Nuclear and Mitochondrial DNA Analysis of a 2,000-Year-Old Necropolis in the Egyin Gol Valley of Mongolia Christine Keyser-Tracqui, Eric Crubézy, Bertrand.
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.

TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription Amita Singh, Emanuel.
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.
Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,

Differential Relationship of DNA Replication Timing to Different Forms of Human Mutation and Variation Amnon Koren, Paz Polak, James Nemesh, Jacob J. Michaelson,
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.
Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages 232-237 (January.

Gene Preference in Maple Syrup Urine Disease Mary M. Nellis, Dean J. Danner The American Journal of Human Genetics Volume 68, Issue 1, Pages (January.
Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.

Alternative Splicing QTLs in European and African Populations Halit Ongen, Emmanouil T. Dermitzakis The American Journal of Human Genetics Volume 97, Issue.
A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.

A Multilocus Model of the Genetic Architecture of Autoimmune Thyroid Disorder, with Clinical Implications Veronica J. Vieland, Yungui Huang, Christopher.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome Sarah B. Pierce,
Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery Herbert A. Lubs, Roger E. Stevenson, Charles E. Schwartz The American Journal.
Gemma L. Carvill, Jacinta M

Gemma L. Carvill, Jacinta M
Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.

Protein-Truncation Mutations in the RP2 Gene in a North American Cohort of Families with X-Linked Retinitis Pigmentosa  Alan J. Mears, Linn Gieser, Denise.
Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S

Ranad Shaheen, Mohammed Al-Owain, Nadia Sakati, Zayed S
The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3  Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam.

The H Syndrome Is Caused by Mutations in the Nucleoside Transporter hENT3  Vered Molho-Pessach, Israela Lerer, Dvorah Abeliovich, Ziad Agha, Abdulasalam.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility  Clothilde Esteve, Ludmila.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility  Clothilde Esteve, Ludmila.
A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

A Novel Mutation and Large Size Polymorphism Affecting the V2 Domain of Keratin 1 in an African-American Family with Severe, Diffuse Palmoplantar Keratoderma.

Similar presentations

Ads by Google