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@article{1548864,
author = {Borská, Romana and Pinková, Blanka and Réblová, Kamila and Bučková, Hana and Kopečková, Lenka and Němečková, Jitka and Puchmajerová, Alena and Malíková, Marcela and Hermanová, Markéta and Fajkusová, Lenka},
article_location = {LONDON},
article_number = {92},
doi = {http://dx.doi.org/10.1186/s13023-019-1076-7},
keywords = {Autosomal recessive congenital ichthyosis; Keratinopathic ichthyosis; In silico analysis; 3D protein structure},
language = {eng},
issn = {1750-1172},
journal = {ORPHANET JOURNAL OF RARE DISEASES},
title = {Inherited ichthyoses: molecular causes of the disease in Czech patients},
url = {https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1076-7},
volume = {14},
year = {2019}
}
TY - JOUR
ID - 1548864
AU - Borská, Romana - Pinková, Blanka - Réblová, Kamila - Bučková, Hana - Kopečková, Lenka - Němečková, Jitka - Puchmajerová, Alena - Malíková, Marcela - Hermanová, Markéta - Fajkusová, Lenka
PY - 2019
TI - Inherited ichthyoses: molecular causes of the disease in Czech patients
JF - ORPHANET JOURNAL OF RARE DISEASES
VL - 14
IS - 92
SP - 1-5
EP - 1-5
PB - BMC
SN - 17501172
KW - Autosomal recessive congenital ichthyosis
KW - Keratinopathic ichthyosis
KW - In silico analysis
KW - 3D protein structure
UR - https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1076-7
L2 - https://ojrd.biomedcentral.com/track/pdf/10.1186/s13023-019-1076-7
N2 - Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic analysis results of probands with X-linked ichthyosis, autosomal recessive congenital ichthyosis, keratinopathic ichthyosis, and a patient with Netherton syndrome. Genetic diagnostics was complemented by in silico missense variant analysis based on 3D protein structures and commonly used prediction programs to compare the yields of these two approaches to each other. This analysis revealed various structural defects in proteins coded by mutated genes while no defects were associated with known polymorphisms. Two patients with pathogenic variants in the ABCA12 gene have a premature termination codon mutation on one allele and a silent variant on the second. The silent variants c.69G>A and c.4977G>A are localised in the last nucleotide of exon 1 and exon 32, respectively, and probably affect mRNA splicing. The phenotype of both patients is very severe, including a picture harlequin foetus after birth; later (at 3 and 6years of age, respectively) ectropin, eclabion, generalised large polygonal scaling and erythema.
ER -
BORSKÁ, Romana, Blanka PINKOVÁ, Kamila RÉBLOVÁ, Hana BUČKOVÁ, Lenka KOPEČKOVÁ, Jitka NĚMEČKOVÁ, Alena PUCHMAJEROVÁ, Marcela MALÍKOVÁ, Markéta HERMANOVÁ and Lenka FAJKUSOVÁ. Inherited ichthyoses: molecular causes of the disease in Czech patients. \textit{ORPHANET JOURNAL OF RARE DISEASES}. LONDON: BMC, 2019, vol.~14, No~92, p.~1-5. ISSN~1750-1172. Available from: https://dx.doi.org/10.1186/s13023-019-1076-7.
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