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.

Základní údaje

Originální název

Inherited ichthyoses: molecular causes of the disease in Czech patients

Autoři

BORSKÁ, Romana; Blanka PINKOVÁ; Kamila RÉBLOVÁ ; Hana BUČKOVÁ; Lenka KOPEČKOVÁ; Jitka NĚMEČKOVÁ; Alena PUCHMAJEROVÁ; Marcela MALÍKOVÁ; Markéta HERMANOVÁ a Lenka FAJKUSOVÁ

Vydání

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

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

10603 Genetics and heredity

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 3.523

Kód RIV

RIV/00216224:14310/19:00107550

Organizační jednotka

Přírodovědecká fakulta

DOI

https://doi.org/10.1186/s13023-019-1076-7

UT WoS

000466907400001

EID Scopus

2-s2.0-85065225494

Klíčová slova anglicky

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

Štítky

14110112, 14110212, 14110317, 14110525, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 29. 4. 2020 11:02, Mgr. Marie Novosadová Šípková, DiS.

Anotace

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.

Návaznosti

GA16-11619S, projekt VaV

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

Investor: Grantová agentura ČR, Základní vlastnosti DNA mutačních coldspotů/hotspotů v genech asociovaných s dědičnými chorobami

LQ1601, projekt VaV

Název: CEITEC 2020 (Akronym: CEITEC2020)

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, CEITEC 2020

TE02000058, projekt VaV

Název: Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu (Akronym: MOLDIMED)

Investor: Technologická agentura ČR, Centrum kompetence pro molekulární diagnostiku a personalizovanou medicínu

Citovat

BORSKÁ, Romana; Blanka PINKOVÁ; Kamila RÉBLOVÁ; Hana BUČKOVÁ; Lenka KOPEČKOVÁ; Jitka NĚMEČKOVÁ; Alena PUCHMAJEROVÁ; Marcela MALÍKOVÁ; Markéta HERMANOVÁ a Lenka FAJKUSOVÁ. Inherited ichthyoses: molecular causes of the disease in Czech patients. ORPHANET JOURNAL OF RARE DISEASES. LONDON: BMC, 2019, roč. 14, č. 92, s. 1-5. ISSN 1750-1172. Dostupné z: https://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 = {https://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 a Lenka FAJKUSOVÁ. Inherited ichthyoses: molecular causes of the disease in Czech patients. \textit{ORPHANET JOURNAL OF RARE DISEASES}. LONDON: BMC, 2019, roč.~14, č.~92, s.~1-5. ISSN~1750-1172. Dostupné z: https://doi.org/10.1186/s13023-019-1076-7.

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