Semidominant Inheritance in Olmsted Syndrome

Slides:

Advertisements

Similar presentations

Molecular Determinants of U-Type Inactivation in Kv2.1 Channels

Advertisements

Dyschromatosis Symmetrica Hereditaria and Aicardi-Goutières Syndrome 6 Are Phenotypic Variants Caused by ADAR1 Mutations Michihiro Kono, Fumihiro Matsumoto,

Functional Modularity of the β-Subunit of Voltage-Gated Ca2+ Channels

DNA-based prenatal exclusion of harlequin ichthyosis

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

Splicing defects in the CFTR gene: Minigene analysis of two mutations, G>C and A>G Gwendal Dujardin, Diane Commandeur, Catherine Le Jossic-Corcos,

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Exome Sequencing Reveals Mutations in TRPV3 as a Cause of Olmsted Syndrome Zhimiao Lin, Quan Chen, Mingyang Lee, Xu Cao, Jie Zhang, Donglai Ma, Long Chen,

Aoi Nakano, Hajime Nakano, Sal LaForgia, Leena Pulkkinen, Jouni Uitto

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3 Chao-Kai Hsu, Maria Teresa Romano, Arti Nanda,

Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3

Exome Sequencing Identifies SLC24A5 as a Candidate Gene for Nonsyndromic Oculocutaneous Albinism Ai-Hua Wei, Dong-Jie Zang, Zhe Zhang, Xuan-Zhu Liu,

Double Heterozygosity for a RET Substitution Interfering with Splicing and an EDNRB Missense Mutation in Hirschsprung Disease Alberto Auricchio, Paola.

Analysis of Rare APC Variants at the mRNA Level

A Recurrent Intragenic Deletion in the Desmoglein 4 Gene Underlies Localized Autosomal Recessive Hypotrichosis Celia Moss, Amalia Martinez-Mir, HaMut.

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

Supplemental Figure 3 A B C T-DNA 1 2 RGLG1 2329bp 3 T-DNA 1 2 RGLG2

Splice Site and Deletion Mutations in Keratin (KRT1 and KRT10) Genes: Unusual Phenotypic Alterations in Scandinavian Patients with Epidermolytic Hyperkeratosis

Novel inactivating mutations in the FSH receptor cause premature ovarian insufficiency with resistant ovary syndrome Wen-Bin He, Juan Du, Xiao-Wen Yang,

Volume 11, Issue 1, Pages (January 2014)

Novel SLC39A4 Mutations in Acrodermatitis Enteropathica

Inversa Acne (Hidradenitis Suppurativa): A Case Report and Identification of the Locus at Chromosome 1p21.1–1q25.3 Min Gao, Pei-Guang Wang, Yong Cui,

Clinical, Cellular, and Molecular Features of an Israeli Xeroderma Pigmentosum Family with a Frameshift Mutation in the XPC Gene: Sun Protection Prolongs.

A Rare Case of Hypohidrotic Ectodermal Dysplasia Caused by Compound Heterozygous Mutations in the EDAR Gene Yutaka Shimomura, Nobuyuki Sato, Akinori.

Activation of a Cryptic Splice Site of PTEN and Loss of Heterozygosity in Benign Skin Lesions in Cowden Disease Stephen J. Meltzer, Manfred Wolter Journal.

RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome Susan J. Hassed, Graham B. Wiley, Shaofeng Wang, Ji-Yun Lee, Shibo Li, Weihong.

A Dominantly Inherited 5′ UTR Variant Causing Methylation-Associated Silencing of BRCA1 as a Cause of Breast and Ovarian Cancer D.Gareth R. Evans, Elke.

A Presenilin-1 Truncating Mutation Is Present in Two Cases with Autopsy-Confirmed Early-Onset Alzheimer Disease Carolyn Tysoe, Joanne Whittaker, John.

Tonic Inhibition of TRPV3 by Mg2+ in Mouse Epidermal Keratinocytes

Mutation in AQP5, Encoding Aquaporin 5, Causes Palmoplantar Keratoderma Bothnia Type Xu Cao, Jinghua Yin, Huijun Wang, Jiahui Zhao, Jie Zhang, Lanlan.

Inherited Junctional Epidermolysis Bullosa in the German Pointer: Establishment of a Large Animal Model Annabelle Capt, Flavia Spirito, Eric Guaguere,

A Novel Point Mutation Affecting the Tyrosine Kinase Domain of the TRKA Gene in a Family with Congenital Insensitivity to Pain with Anhidrosis Shinichi.

Neil V. Whittock, Gabrielle H. S. Ashton, Patricia J. C

Founder Mutations in the Lipase H Gene in Families with Autosomal Recessive Woolly Hair/Hypotrichosis Yutaka Shimomura, Muhammad Wajid, Abraham Zlotogorski,

Identification of a Kir3.4 Mutation in Congenital Long QT Syndrome

Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita Neil J. Wilson, Mónica L. Cárdenas.

Volume 97, Issue 3, Pages (August 2009)

Biallelic Mutations in PATL2 Cause Female Infertility Characterized by Oocyte Maturation Arrest Biaobang Chen, Zhihua Zhang, Xiaoxi Sun, Yanping Kuang,

A Gain-of-Function Mutation in TRPV3 Causes Focal Palmoplantar Keratoderma in a Chinese Family Yuqing He, Kang Zeng, Xibao Zhang, Qiaolin Chen, Jiang.

Ryan McDaniell, Daniel M. Warthen, Pedro A

A Novel Arginine→Serine Mutation in EDA1 in a Japanese Family with X-Linked Anhidrotic Ectodermal Dysplasia Noriaki Aoki, Kaoru Ito, Toshiaki Tachibana,

Dominique J. Verlaan, Adrian M. Siegel, Guy A. Rouleau

Nicastrin Mutations in French Families with Hidradenitis Suppurativa

Compound Heterozygosity for Non-Sense and Mis-Sense Mutations in Desmoplakin Underlies Skin Fragility/Woolly Hair Syndrome Neil V. Whittock, Hong Wan,

Identification of a KCNE2 Gain-of-Function Mutation in Patients with Familial Atrial Fibrillation Yiqing Yang, Min Xia, Qingfeng Jin, Saïd Bendahhou,

Epidermolytic Hyperkeratosis and Epidermolysis Bullosa Simplex Caused by Frameshift Mutations Altering the V2 Tail Domains of Keratin 1 and Keratin 5

Homozygous Variegate Porphyria: Identification of Mutations on Both Alleles of the Protoporphyrinogen Oxidase Gene in a Severely Affected Proband Jorge.

Identification of a Novel Locus for Marie Unna Hereditary Hypotrichosis to a 17.5 cM Interval at 1p21.1–1q21.3 Sen Yang, Min Gao, Yong Cui, Kai-Lin Yan,

Compound Heterozygosity for Novel Splice Site Mutations in the BPAG2/COL17A1 Gene Underlies Generalized Atrophic Benign Epidermolysis Bullosa Leena Pulkkinen,

A Usual Frameshift and Delayed Termination Codon Mutation in Keratin 5 Causes a Novel Type of Epidermolysis Bullosa Simplex with Migratory Circinate Erythema

Elementary Functional Properties of Single HCN2 Channels

New and Recurrent SERPINB7 Mutations in Seven Chinese Patients with Nagashima- Type Palmoplantar Keratosis Jinghua Yin, Guiwen Xu, Huijun Wang, Jiahui.

Alireza Haghighi, Claire A. Scott, Daniel S

Identification of a Lethal Form of Epidermolysis Bullosa Simplex Associated with a Homozygous Genetic Mutation in Plectin Maryse Bonduelle, Linda De.

Journal of Investigative Dermatology

Identification of Recurrent Mutations in the ARS (Component B) Gene Encoding SLURP-1 in Two Families with Mal de Meleda Kimberley Morine Ward, Jülide.

Volume 59, Issue 5, Pages (May 2001)

A Mutation in the V1 Domain of K16 is Responsible for Unilateral Palmoplantar Verrucous Nevus Alessandro Terrinoni, Vincenzo De Laurenzi, Eleonora Candi,

Neil V. Whittock, Frances J. Smith, W.H. Irwin McLean

Anthony M. Raizis, Martin M. Ferguson, David T. Nicholls, Derek W

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome Douglas J.

A Second Leaky Splice-Site Mutation in the Spastin Gene

Mutations in CHEK2 Associated with Prostate Cancer Risk

Use Dependence of Heat Sensitivity of Vanilloid Receptor TRPV2

Gain-of-Function Mutations in SCN11A Cause Familial Episodic Pain

A Mutation in CABP2, Expressed in Cochlear Hair Cells, Causes Autosomal-Recessive Hearing Impairment Isabelle Schrauwen, Sarah Helfmann, Akira Inagaki,

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,

Identification of Novel pro-α2(IX) Collagen Gene Mutations in Two Families with Distinctive Oligo-Epiphyseal Forms of Multiple Epiphyseal Dysplasia Paul.

Zhimiao Lin, Quan Chen, Lei Shi, Mingyang Lee, Kathrin A

CARD9 mutations linked to subcutaneous phaeohyphomycosis and TH17 cell deficiencies Xiaowen Wang, MD, Wenyan Wang, PhD, Zhimiao Lin, MD, Xiaolin Wang,

Presentation transcript:

Semidominant Inheritance in Olmsted Syndrome Xu Cao, Huijun Wang, Yanhong Li, Mingyang Lee, Liya Jiang, Yun Zhou, Cheng Feng, Zhimiao Lin, Yong Yang Journal of Investigative Dermatology Volume 136, Issue 8, Pages 1722-1725 (August 2016) DOI: 10.1016/j.jid.2016.04.024 Copyright © 2016 The Authors Terms and Conditions

Figure 1 Clinical features, transient receptor potential vanilloid type 3 (TRPV3) mutations and mutant cDNA transcript. (a) The pedigree of the family. The proband (arrow) with compound heterozygous mutations in TRPV3 was indicated by black filled symbols, whereas other mildly affected members were indicated by gray filled symbols. (b−e) Hyperkeratosis was more severe in the proband (b−d) with flexion contraction of fingers compared with focal plantar keratosis in his father (e). Note the redness on the feet of the proband (d). (f, g) Genomic DNA sequence of heterozygous mutations c.1702G>T (f) and c.643+1G>T (g) in TRPV3. Arrows indicate the mutation nucleotides. (h) Sequencing of cDNA derived from skin lesion of the proband revealed that mutation c.643+1G>T led to an alternative donor splice site deep in intron 6, resulting in an insertion of 2953 bp from the initiation of intron 6 (termed Exon 6a). (i) Schematic illustration of the wild-type transcript (WT, top) and the new transcript (bottom) from the allele of mutation c.643+1G>T. Journal of Investigative Dermatology 2016 136, 1722-1725DOI: (10.1016/j.jid.2016.04.024) Copyright © 2016 The Authors Terms and Conditions

Figure 2 Electrophysiological studies on transient receptor potential vanilloid type 3 (TRPV3) channels of wild-type (WT), G568C mutant, and WT plus G568C. (a) Model of the TRPV3 channel containing WT subunit (blank), G568C mutant (hatched), and WT plus G568C. (b−d) Representative inside-out recordings from cells transfected with WT, G568C mutant, and WT plus G568C. Patches were held at 0 mV, steps from −160 to 240 mV in an increment of 20 mV for 300 ms, and then back to −100 for 100 ms. (e) Respective current density-voltage plots of steady-state currents from b−d. (f−h) Representative current traces at ±80 mV were recorded from inside-out patches facing solutions at various concentrations of 2-aminoethoxydiphenyl borate (2-APB). (i) 2-APB dose-response curves of WT, G568C mutant, and WT plus G568C. (j) Comparison of EC50 values of WT, G568C mutant, and WT plus G568C. n = 3−5. Statistical analyses were performed using Student’s t-test. *P < 0.05; **P < 0.01. Journal of Investigative Dermatology 2016 136, 1722-1725DOI: (10.1016/j.jid.2016.04.024) Copyright © 2016 The Authors Terms and Conditions