Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak.

Slides:

Advertisements

Similar presentations

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.

Advertisements

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina Fine,

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family Fatemeh Alasti, Abdorrahim Sadeghi, Mohammad Hossein Sanati,

Identification of a Major Susceptibility Locus for Restless Legs Syndrome on Chromosome 12q Alex Desautels, Gustavo Turecki, Jacques Montplaisir, Adolfo.

Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot-Marie-Tooth Disorder.

Mutations in AGBL1 Cause Dominant Late-Onset Fuchs Corneal Dystrophy and Alter Protein-Protein Interaction with TCF4 S. Amer Riazuddin, Shivakumar Vasanth,

Genetic Linkage of Paget Disease of the Bone to Chromosome 18q

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

Stephan Züchner, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A

Use of Homozygosity Mapping to Identify a Region on Chromosome 1 Bearing a Defective Gene That Causes Autosomal Recessive Homozygous Hypercholesterolemia.

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

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

PLA2G6 Mutation Underlies Infantile Neuroaxonal Dystrophy

Homozygous Deletion of the Very Low Density Lipoprotein Receptor Gene Causes Autosomal Recessive Cerebellar Hypoplasia with Cerebral Gyral Simplification

Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders,

Volume 63, Issue 1, Pages (January 2003)

Neuropathy Target Esterase Gene Mutations Cause Motor Neuron Disease

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

The Gene for Glycogen-Storage Disease Type 1b Maps to Chromosome 11q23

Use of Closely Related Affected Individuals for the Genetic Study of Complex Diseases in Founder Populations C. Bourgain, E. Génin, P. Holopainen, K.

A Family with Isolated Hyperparathyroidism Segregating a Missense MEN1 Mutation and Showing Loss of the Wild-Type Alleles in the Parathyroid Tumors Bin.

Complement Factor H Gene Mutation Associated with Autosomal Recessive Atypical Hemolytic Uremic Syndrome Lihua Ying, Yitzhak Katz, Menachem Schlesinger,

Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase

Mutations in TRIOBP, Which Encodes a Putative Cytoskeletal-Organizing Protein, Are Associated with Nonsyndromic Recessive Deafness Saima Riazuddin, Shaheen.

A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia John C. van Swieten, Esther Brusse, Bianca M.

Imprinting at the SMPD1 Locus: Implications for Acid Sphingomyelinase–Deficient Niemann-Pick Disease Calogera M. Simonaro, Jae-Ho Park, Efrat Eliyahu,

Mutations in CABP4, the Gene Encoding the Ca2+-Binding Protein 4, Cause Autosomal Recessive Night Blindness Christina Zeitz, Barbara Kloeckener-Gruissem,

Fine Mapping of the Split-Hand/Split-Foot Locus (SHFM3) at 10q24: Evidence for Anticipation and Segregation Distortion Rýdvan S. Özen, Bora E. Baysal,

Howard B. Yeon, Noralane M. Lindor, J.G. Seidman, Christine E. Seidman

Pseudoexon Activation as a Novel Mechanism for Disease Resulting in Atypical Growth- Hormone Insensitivity Louise A. Metherell, Scott A. Akker, Patricia.

A Nonsense Mutation in CRYBB1 Associated with Autosomal Dominant Cataract Linked to Human Chromosome 22q Donna S. Mackay, Olivera B. Boskovska, Harry.

Volume 63, Issue 1, Pages (January 2003)

Airong Li, Sonia Davila, Laszlo Furu, Qi Qian, Xin Tian, Patrick S

Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria Barbara Kloeckener-Gruissem,

A Locus for Hereditary Sensory Neuropathy with Cough and Gastroesophageal Reflux on Chromosome 3p22-p24 C. Kok, M.L. Kennerson, P.J. Spring, A.J. Ing,

Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ Ortal Barel, Zamir Shorer, Hagit Flusser, Rivka Ofir, Ginat Narkis,

Hal M. Hoffman, Fred A. Wright, David H. Broide, Alan A

Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13 Federico Zara, Elena Gennaro, Mariano.

A Missense Mutation in the Zinc-Finger Domain of the Human Hairless Gene Underlies Congenital Atrichia in a Family of Irish Travellers Wasim Ahmad, Alan.

CC2D2A, Encoding A Coiled-Coil and C2 Domain Protein, Causes Autosomal- Recessive Mental Retardation with Retinitis Pigmentosa Abdul Noor, Christian Windpassinger,

High Myopia Caused by a Mutation in LEPREL1, Encoding Prolyl 3-Hydroxylase 2 Shikma Mordechai, Libe Gradstein, Annika Pasanen, Rivka Ofir, Khalil El Amour,

A Mutation in the Variable Repeat Region of the Aggrecan Gene (AGC1) Causes a Form of Spondyloepiphyseal Dysplasia Associated with Severe, Premature.

Two New Loci for Autosomal Recessive Ichthyosis on Chromosomes 3p21 and 19p12- q12 and Evidence for Further Genetic Heterogeneity Judith Fischer, Alexandra.

Lethal Contractural Syndrome Type 3 (LCCS3) Is Caused by a Mutation in PIP5K1C, Which Encodes PIPKIγ of the Phophatidylinsitol Pathway Ginat Narkis,

Homozygosity and Linkage-Disequilibrium Mapping of the Syndrome of Congenital Hypoparathyroidism, Growth and Mental Retardation, and Dysmorphism to a.

Retinitis Pigmentosa and Progressive Sensorineural Hearing Loss Caused by a C12258A Mutation in the Mitochondrial MTTS2 Gene Fiona C. Mansergh, Sophia.

A Severely Affected Male Born into a Rett Syndrome Kindred Supports X-Linked Inheritance and Allows Extension of the Exclusion Map Carolyn Schanen, Uta.

Matthew R. Avenarius, Michael S. Hildebrand, Yuzhou Zhang, Nicole C

X-Linked Dominant Scapuloperoneal Myopathy Is Due to a Mutation in the Gene Encoding Four-and-a-Half-LIM Protein 1 Catarina M. Quinzii, Tuan H. Vu, K.

A Defect in the TUSC3 Gene Is Associated with Autosomal Recessive Mental Retardation Masoud Garshasbi, Valeh Hadavi, Haleh Habibi, Kimia Kahrizi, Roxana.

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy Orly Agamy, Bruria Ben Zeev, Dorit Lev, Barak Marcus, Dina.

Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore

A Progressive Autosomal Recessive Cataract Locus Maps to Chromosome 9q13-q22 Elise Héon, Andrew D. Paterson, Michael Fraser, Gail Billingsley, Megan Priston,

Oligodontia Is Caused by Mutation in LTBP3, the Gene Encoding Latent TGF-β Binding Protein 3 Abdul Noor, Christian Windpassinger, Irina Vitcu, Marija.

Mutations in POLR3A and POLR3B Encoding RNA Polymerase III Subunits Cause an Autosomal-Recessive Hypomyelinating Leukoencephalopathy Hirotomo Saitsu,

Arun Kumar, Satish C. Girimaji, Mahesh R. Duvvari, Susan H. Blanton

A Gene for an Autosomal Dominant Scleroatrophic Syndrome Predisposing to Skin Cancer (Huriez Syndrome) Maps to Chromosome 4q23 Young-Ae Lee, Howard P.

Mutations in NEXN, a Z-Disc Gene, Are Associated with Hypertrophic Cardiomyopathy Hu Wang, Zhaohui Li, Jizheng Wang, Kai Sun, Qiqiong Cui, Lei Song, Yubao.

Autosomal-Dominant Retinitis Pigmentosa Caused by a Mutation in SNRNP200, a Gene Required for Unwinding of U4/U6 snRNAs Chen Zhao, Deepti L. Bellur,

Meconium Ileus Caused by Mutations in GUCY2C, Encoding the CFTR-Activating Guanylate Cyclase 2C Hila Romi, Idan Cohen, Daniella Landau, Suliman Alkrinawi,

A Mutation in LIPN, Encoding Epidermal Lipase N, Causes a Late-Onset Form of Autosomal-Recessive Congenital Ichthyosis Shirli Israeli, Ziyad Khamaysi,

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

A Homozygous Mutation in ADAMTSL4 Causes Autosomal-Recessive Isolated Ectopia Lentis Dina Ahram, T. Shawn Sato, Abdulghani Kohilan, Marwan Tayeh, Shan.

Exon Skipping in IVD RNA Processing in Isovaleric Acidemia Caused by Point Mutations in the Coding Region of the IVD Gene Jerry Vockley, Peter K. Rogan,

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

A Locus for Autosomal Dominant Hereditary Spastic Ataxia, SAX1,Maps to Chromosome 12p13 I.A. Meijer, C.K. Hand, K.K. Grewal, M.G. Stefanelli, E.J. Ives,

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia- Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34 Andrea H. Németh, Elena.

Presentation transcript:

Hyperchlorhidrosis Caused by Homozygous Mutation in CA12, Encoding Carbonic Anhydrase XII Maya Feldshtein, Suliman Elkrinawi, Baruch Yerushalmi, Barak Marcus, Daniela Vullo, Hila Romi, Rivka Ofir, Daniel Landau, Sara Sivan, Claudiu T. Supuran, Ohad S. Birk The American Journal of Human Genetics Volume 87, Issue 5, Pages 713-720 (November 2010) DOI: 10.1016/j.ajhg.2010.10.008 Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree of the Affected Israeli-Bedouin Kindred The pedigree is compatible with autosomal-recessive heredity. The American Journal of Human Genetics 2010 87, 713-720DOI: (10.1016/j.ajhg.2010.10.008) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 2 Fine Mapping of the Chromosome 15 Locus Partial pedigree of the large Israeli-Bedouin kindered and disease-haplotype segregation. The two lines indicate a crossing over event. Disease associated haplotype shown in boxes. Markers chr15:61090417-61090468 and rs16949924 define the minimal homozygosity locus associated with the disease (Individual IV:15). The affected haplotype is shaded. Numbers below symbols correspond to the position of individuals within the pedigree (see Figure 1). Blank spaces indicate non-genotyped markers. The American Journal of Human Genetics 2010 87, 713-720DOI: (10.1016/j.ajhg.2010.10.008) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 3 The c.427G>A (p.Glu143Lys) Mutation in Exon 4 of CA12, and CA12 Expression Sequence analysis is shown for an unaffected individual (A), an obligatory carrier (B), and an affected individual (C). (D) ConSeq analysis for the p.Glu143Lys residue (marked with an arrow), demonstrating conservation grade 9 (highly conserved). (E) RT-PCR demonstrating that CA12 (as well as actin control) are transcribed in normal human foreskin (1,2) and arm skin (3,4). PCR primer sequences available upon request. Lane 5 = size marker. Lanes 6,7 represent negative controls for CA12 and actin PCR reactions, with no cDNA template. The American Journal of Human Genetics 2010 87, 713-720DOI: (10.1016/j.ajhg.2010.10.008) Copyright © 2010 The American Society of Human Genetics Terms and Conditions

Figure 4 Inhibition Constants for Anionic Inhibitors of Human Wild-Type and Mutant hCA XII, for the CO2 Hydration Reaction, at 20°C14 The American Journal of Human Genetics 2010 87, 713-720DOI: (10.1016/j.ajhg.2010.10.008) Copyright © 2010 The American Society of Human Genetics Terms and Conditions