Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin,

Published by琰麟 祝 Modified over 5 years ago

Similar presentations

Presentation on theme: "Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin,"— Presentation transcript:

1 Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin, Eissa Faqeih, Ali Alasmari, Maha S. Zaki, Joseph G. Gleeson, Fowzan S. Alkuraya  The American Journal of Human Genetics  Volume 98, Issue 1, Pages (January 2016) DOI: /j.ajhg Copyright © 2016 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Characterization of Four Families with Severe Non-Epileptic Encephalopathy (A) Pedigrees of the four study families. (B1) Facial image of individual F1_IV:5 (6 years and 5 months), showing high forehead, prominent nasal bridge, and tented upper lip. (B2) Facial image of individual F2_IV:1 (2 years). (B3) Facial image of individual F2_IV:2 (11 months). (B4) Facial image of individual F3_IV4 (8 years and 9 months), showing similar facial appearance to the other affected individuals. Note the additional presence of microcephaly, plagiocephaly, and brachycephaly. (B5) Facial images of individual F4_V:1 and (B6) of individual F4_V:2, showing similar but milder facial features. (B7 and B8) Brain MRI of individual F1_IV:5, showing mild diffuse brain atrophy. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Identification of UNC80 Mutations in Severe Non-Epileptic Encephalopathy (A) Genome-wide autozygosity mapping combining families 1, 2, and 3 reveals a single interval that is exclusively shared by the affected members and is demarcated by three navy bars (red arrow). (B) Linkage analysis shows a corresponding significant peak on chromosome 2. (C) Cartoon of UNC80 with the position of the two homozygous nonsense and one homozygous missense variants shown (in each chromatogram, the tracing of the affected individual is shown on top and that of the carrier parent is shown below with a red asterisk indicating the position of the variant). The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2016 The American Society of Human Genetics Terms and Conditions

Download ppt "Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy  Hanan E. Shamseldin,"

Similar presentations

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.
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.
Hongda Li, Stephanie L. Bielas, Maha S

Hongda Li, Stephanie L. Bielas, Maha S
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.
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.
Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms  Leen Abu-Safieh, Emad B. Abboud, Hisham Alkuraya,

Mutation of IGFBP7 Causes Upregulation of BRAF/MEK/ERK Pathway and Familial Retinal Arterial Macroaneurysms  Leen Abu-Safieh, Emad B. Abboud, Hisham Alkuraya,
Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.
Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M

Tracy Dixon-Salazar, Jennifer L. Silhavy, Sarah E. Marsh, Carrie M
Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.

Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature  Jose Morales, Latifa.
GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome

GZF1 Mutations Expand the Genetic Heterogeneity of Larsen Syndrome
Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay  Moeenaldeen D. Al-Sayed, Hamad.

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay  Moeenaldeen D. Al-Sayed, Hamad.
Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D

Soraya Beiraghi, Swapan K. Nath, Matthew Gaines, Desh D
Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.

Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly  Julie Jerber, Maha S. Zaki, Jumana.
Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss  Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,
Abdul K. Siraj, Tariq Masoodi, Rong Bu, Shaham Beg, Saif S

Abdul K. Siraj, Tariq Masoodi, Rong Bu, Shaham Beg, Saif S
Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 

Ren-Hua Chung, Richard W. Morris, Li Zhang, Yi-Ju Li, Eden R. Martin 
De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 

De Novo Loss-of-Function Mutations in SETD5, Encoding a Methyltransferase in a 3p25 Microdeletion Syndrome Critical Region, Cause Intellectual Disability 
Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C
Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2  Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour,

Female Infertility Caused by Mutations in the Oocyte-Specific Translational Repressor PATL2  Sateesh Maddirevula, Serdar Coskun, Saad Alhassan, Atif Elnour,
A Combined Linkage-Physical Map of the Human Genome

A Combined Linkage-Physical Map of the Human Genome

Similar presentations

Ads by Google