Inherited ichthyoses: molecular causes of the disease in Czech
patients

J 2019

Inherited ichthyoses: molecular causes of the disease in Czech patients

BORSKÁ, Romana, Blanka PINKOVÁ, Kamila RÉBLOVÁ, Hana BUČKOVÁ, Lenka KOPEČKOVÁ et. al.

Basic information

Original name

Inherited ichthyoses: molecular causes of the disease in Czech patients

Authors

BORSKÁ, Romana (203 Czech Republic, belonging to the institution), Blanka PINKOVÁ (203 Czech Republic, belonging to the institution), Kamila RÉBLOVÁ (203 Czech Republic, belonging to the institution), Hana BUČKOVÁ (203 Czech Republic, belonging to the institution), Lenka KOPEČKOVÁ (203 Czech Republic, belonging to the institution), Jitka NĚMEČKOVÁ (203 Czech Republic, belonging to the institution), Alena PUCHMAJEROVÁ (203 Czech Republic), Marcela MALÍKOVÁ (203 Czech Republic), Markéta HERMANOVÁ (203 Czech Republic, belonging to the institution) and Lenka FAJKUSOVÁ (203 Czech Republic, guarantor, belonging to the institution)

Edition

ORPHANET JOURNAL OF RARE DISEASES, LONDON, BMC, 2019, 1750-1172

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

United Kingdom of Great Britain and Northern Ireland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 3.523

RIV identification code

RIV/00216224:14310/19:00107550

Organization unit

Faculty of Science

DOI

http://dx.doi.org/10.1186/s13023-019-1076-7

UT WoS

000466907400001

Keywords in English

Autosomal recessive congenital ichthyosis; Keratinopathic ichthyosis; In silico analysis; 3D protein structure

Abstract

V originále

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.

Links

GA16-11619S, research and development project

Name: Základní vlastnosti DNA mutačních coldspotů/hotspotů v genech asociovaných s dědičnými chorobami

Investor: Czech Science Foundation

LQ1601, research and development project

Name: CEITEC 2020 (Acronym: CEITEC2020)

Investor: Ministry of Education, Youth and Sports of the CR

TE02000058, research and development project

Name: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Acronym: MOLDIMED)

Investor: Technology Agency of the Czech Republic

Citovat

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. 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.

@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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