Presentation is loading. Please wait.

Presentation is loading. Please wait.

Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia  Simon Edvardson, Hiroko Hama,

Published byScot Thompson Modified over 4 years ago

Similar presentations

Presentation on theme: "Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia  Simon Edvardson, Hiroko Hama,"— Presentation transcript:

1 Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia  Simon Edvardson, Hiroko Hama, Avraham Shaag, John Moshe Gomori, Itai Berger, Dov Soffer, Stanley H. Korman, Ilana Taustein, Ann Saada, Orly Elpeleg  The American Journal of Human Genetics  Volume 83, Issue 5, Pages (November 2008) DOI: /j.ajhg Copyright © 2008 The American Society of Human Genetics Terms and Conditions

2 Figure 1 The Families' Pedigree and Haplotype along the Critical Region on Chromosome 16 (A) Family 1 pedigree and their haplotype along the critical region on chromosome 16. Patients' symbols are filled. Numbered symbols represent individuals whose DNA samples were available for analysis. The polymorphic microsatellite markers and their chromosomal locations (in Mb) are given in the upper-left panel. C16 _65.77 stands for hg18_chr16: , C16_67.21 stands for hg18_chr16: , C16_68.20 stands for hg18_ chr16: , C16_69.20 stands for hg18_chr16: , and C16_73.87 stands for hg18_chr16: (B) Family 2 pedigree. The asterisk represents an individual whose family name is identical to that of family 1. (C) Family 3 pedigree. The polymorphic microsatellite markers and their location are given at the upper-left and upper-right panel, for family 2 and family 3, respectively. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Electron Micrograph of the Sural Nerve Showing Normal Structure and Distribution of Myelinated and Unmyelinated Nerve Fibers The inset shows details of a myelin sheath to show normal compaction and periodicity of myelin lamellae. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Brain MRI of Patient 2762 at 7 Years of Age and Patient 1211 at 18 Years of Age (A) Sagittal T1 weighted image. (B) Axial T2 weighted image. (C and D) Axial FLAIR images showing prolonged relaxation times in the periventricular white matter, more prominent posteriorly, and to a lesser extent in the posterior limbs of the internal capsules. There is no significant loss of volume. Images in (A)–(D) are of patient 2762 at 7 years of age. (E and F) Sagittal T1 weighted (E) and axial T2 weighted (F) images showing loss of volume of the corpus callosum and to a lesser extent of the cerebellum and pons. Images are of patient 1211 at 18 years of age. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Mutations in the FA2H Gene
(A) A cDNA fragment of the FA2H gene from the patients of family 1 and 2 who are homozygous for the c.786+1G→A mutation. Lane 1 represents the control, lane 2 represents the patient, and lane 3 represents the DNA ladder marker. (B) Sequence of the short cDNA fragment demonstrating exon 5 and 6 skipping. (C) Schematic representation of the conserved domains of the FA2H protein. Cyt-b5 stands for cytochrome b5-like heme-binding domain and ERG3 is the sterol desaturase domain. The locations of the residues encoded by exon 5 and 6 and of the two mutations are shown. (D) Conservation throughout evolution of the aspartic acid at codon 35 (in bold), which is mutated in patients from family 3. The American Journal of Human Genetics  , DOI: ( /j.ajhg ) Copyright © 2008 The American Society of Human Genetics Terms and Conditions

Download ppt "Mutations in the Fatty Acid 2-Hydroxylase Gene Are Associated with Leukodystrophy with Spastic Paraparesis and Dystonia  Simon Edvardson, Hiroko Hama,"

Similar presentations

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.
Volume 148, Issue 3, Pages e4 (March 2015)

Volume 148, Issue 3, Pages e4 (March 2015)
Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.

Figure 1 Phenotype and genotype of an undiagnosed family with autosomal recessive spastic ataxia Phenotype and genotype of an undiagnosed family with autosomal.
Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.
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.
Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q
Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)  Esther Meyer, Christopher.

Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)  Esther Meyer, Christopher.
Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta  Walid El-Sayed, David A. Parry, Roger C. Shore,

Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta  Walid El-Sayed, David A. Parry, Roger C. Shore,
Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion  Orly Elpeleg, Chaya.

Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion  Orly Elpeleg, Chaya.
A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,

A Missense Mutation in PRPF6 Causes Impairment of pre-mRNA Splicing and Autosomal-Dominant Retinitis Pigmentosa  Goranka Tanackovic, Adriana Ransijn,
PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy
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,
An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.

An Autosomal Dominant Thrombocytopenia Gene Maps to Chromosomal Region 10p  Anna Savoia, Maria Del Vecchio, Antonio Totaro, Silverio Perrotta, Giovanni.
A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum 

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum 
Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease
Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood

Mutations in LPIN1 Cause Recurrent Acute Myoglobinuria in Childhood
A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation  Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation  Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.
Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C
Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications  Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer,

Mutations in DDR2 Gene Cause SMED with Short Limbs and Abnormal Calcifications  Ruth Bargal, Valerie Cormier-Daire, Ziva Ben-Neriah, Martine Le Merrer,

Similar presentations

Ads by Google