scholarly journals Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin

2020 ◽  
Vol 13 (5) ◽  
pp. 557-559
Author(s):  
Nosheen Reza ◽  
Lily Hoffman-Andrews ◽  
Jessica L. Chowns ◽  
Amy Marzolf ◽  
Bridget E. Shields ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma ◽  
Arrhythmogenic Cardiomyopathy ◽  
Curly Hair

Autosomal dominant diffuse nonepidermolytic palmoplantar keratoderma due to a recurrent mutation in aquaporin-5

2015 ◽  
Vol 174 (2) ◽  
pp. 430-432 ◽  
Author(s):  
A. Abdul-Wahab ◽  
T. Takeichi ◽  
L. Liu ◽  
D. Lomas ◽  
B. Hughes ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Recurrent Mutation ◽  
Palmoplantar Keratoderma ◽  
Aquaporin 5

DLX3 Mutation in a New Family and Its Phenotypic Variations

2008 ◽  
Vol 87 (4) ◽  
pp. 354-357 ◽  
Author(s):  
S.-K. Lee ◽  
Z.H. Lee ◽  
S.-J. Lee ◽  
B.-D. Ahn ◽  
Y.-J. Kim ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Autosomal Dominant ◽  
Mutational Analysis ◽  
Enamel Hypoplasia ◽  
Enamel Defects ◽  
Clinical Phenotypes ◽  
New Family ◽  
Dominant Disease ◽  
Curly Hair ◽  
Phenotypic Variations

Tricho-dento-osseous syndrome (TDO) is an autosomal-dominant disease characterized by curly hair at birth, enamel hypoplasia, taurodontism, and a thick cortical bone. A common DLX3 gene mutation (c.571_574delGGGG) has been identified in multiple families with variable clinical phenotypes. Recently, another DLX3 gene mutation (c.561_562delCT) was reported to cause amelogenesis imperfecta with taurodontism (AIHHT). We identified a Korean family with overlapping phenotypes of TDO and AIHHT. We performed mutational analysis to discover its genetic etiology. The identified mutation was c.561_562delCT mutation in the DLX3 gene. The enamel was hypomature and hypoplastic. The characteristic taurodontic features were not identified. Increased bone density or thickness could not be revealed by cephalometric, hand-wrist, and panoramic radiographs. Affected individuals reported that their nails were brittle, and they had curly hair at birth. This study clearly showed that the c.561_562delCT mutation had not only enamel defects, but also other clinical phenotypes resembling those of TDO syndrome.

Mutations in AAGAB underlie autosomal dominant punctate palmoplantar keratoderma

2017 ◽  
Vol 42 (3) ◽  
pp. 316-319 ◽  
Author(s):  
N. Dinani ◽  
M. Ali ◽  
L. Liu ◽  
J. McGrath ◽  
J. Mellerio
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

Palmoplantar keratoderma with curly hair

2017 ◽  
Vol 34 (6) ◽  
pp. 724-725
Author(s):  
Sanjay Singh ◽  
Prateek Sondhi ◽  
Gomathy Sethuraman
Keyword(s):  
Palmoplantar Keratoderma ◽  
Curly Hair

scholarly journals Mutations in AQP5, Encoding a Water-Channel Protein, Cause Autosomal-Dominant Diffuse Nonepidermolytic Palmoplantar Keratoderma

2013 ◽  
Vol 93 (2) ◽  
pp. 330-335 ◽  
Author(s):  
Diana C. Blaydon ◽  
Lisbet K. Lind ◽  
Vincent Plagnol ◽  
Kenneth J. Linton ◽  
Francis J.D. Smith ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Water Channel ◽  
Palmoplantar Keratoderma ◽  
Channel Protein ◽  
Water Channel Protein

scholarly journals Comprehensive Risk Management in Arrhythmogenic Cardiomyopathy Associated With Autosomal Dominant Carvajal Syndrome

2020 ◽  
Vol 2 (6) ◽  
pp. 925-929
Author(s):  
Maria Grazia De Gregorio ◽  
Francesca Girolami ◽  
Benedetta Tomberli ◽  
Guendalina Rossi ◽  
Alessia Tomberli ◽  
...  
Keyword(s):  
Risk Management ◽  
Autosomal Dominant ◽  
Arrhythmogenic Cardiomyopathy

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

2009 ◽  
Vol 161 (3) ◽  
pp. 692-694 ◽  
Author(s):  
M. Zamiri ◽  
F.J.D. Smith ◽  
L.E. Campbell ◽  
L. Tetley ◽  
R.A.J. Eady ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Palmoplantar Keratoderma

Autosomal‐dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in‐frame DSP nonsense mutation

2018 ◽  
Vol 176 (7) ◽  
pp. 1622-1626 ◽  
Author(s):  
Sajya M. Singh ◽  
Susan A. Casey ◽  
Allison A. Berg ◽  
Raed H. Abdelhadi ◽  
William T. Katsiyiannis ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Autosomal Dominant ◽  
Large Family ◽  
Arrhythmogenic Cardiomyopathy
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