| DOUBKOVÁ, Martina, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Michaela PEŠOVÁ, Jakub TRIZULJAK, Karol PÁL, Klára SVOBODOVÁ, Kamila RÉBLOVÁ, Hana SVOZILOVÁ, Zuzana VRZALOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. HUMAN GENOME VARIATION. LONDON: NATURE PUBLISHING GROUP, 2019, vol. 6, MAR, p. nestrankovano, 6 pp. ISSN 2054-345X. Available from: https://dx.doi.org/10.1038/s41439-019-0044-z. |
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@article{1538917,
author = {Doubková, Martina and Staňo Kozubík, Kateřina and Radová, Lenka and Pešová, Michaela and Trizuljak, Jakub and Pál, Karol and Svobodová, Klára and Réblová, Kamila and Svozilová, Hana and Vrzalová, Zuzana and Pospíšilová, Šárka and Doubek, Michael},
article_location = {LONDON},
article_number = {MAR},
doi = {http://dx.doi.org/10.1038/s41439-019-0044-z},
keywords = {IDIOPATHIC PULMONARY-FIBROSIS; SURFACTANT PROTEIN-A; LUNG-DISEASE; PATHOLOGICAL FEATURES; RTEL1; DIAGNOSIS; VARIANTS; UPDATE; ABCA3},
language = {eng},
issn = {2054-345X},
journal = {HUMAN GENOME VARIATION},
title = {A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia},
url = {https://www.nature.com/articles/s41439-019-0044-z},
volume = {6},
year = {2019}
}
TY - JOUR
ID - 1538917
AU - Doubková, Martina - Staňo Kozubík, Kateřina - Radová, Lenka - Pešová, Michaela - Trizuljak, Jakub - Pál, Karol - Svobodová, Klára - Réblová, Kamila - Svozilová, Hana - Vrzalová, Zuzana - Pospíšilová, Šárka - Doubek, Michael
PY - 2019
TI - A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia
JF - HUMAN GENOME VARIATION
VL - 6
IS - MAR
SP - nestrankovano
EP - nestrankovano
PB - NATURE PUBLISHING GROUP
SN - 2054345X
KW - IDIOPATHIC PULMONARY-FIBROSIS
KW - SURFACTANT PROTEIN-A
KW - LUNG-DISEASE
KW - PATHOLOGICAL FEATURES
KW - RTEL1
KW - DIAGNOSIS
KW - VARIANTS
KW - UPDATE
KW - ABCA3
UR - https://www.nature.com/articles/s41439-019-0044-z
L2 - https://www.nature.com/articles/s41439-019-0044-z
N2 - Different genes related to alveolar stability have been associated with familial interstitial pneumonia (FIP). Here, we report a novel, rare SFTPA1 variant in a family with idiopathic interstitial pneumonia (IIP). We performed whole-exome sequencing on germline DNA samples from four members of one family; three of them showed signs of pulmonary fibrosis (idiopathic interstitial pneumonia) with autosomal-dominant inheritance. A heterozygous single nucleotide variant c.532 G > A in the SFTPA1 gene has been identified. This variant encodes the substitution p.(Val178Met), localized within the carbohydrate recognition domain of surfactant protein A and segregates with the genes causing idiopathic interstitial pneumonia. This rare variant has not been previously reported. We also analyzed the detected sequence variant in the protein structure in silica The replacement of valine by the larger methionine inside the protein may cause a disruption in the protein structure. The c.532 G > A variant was further validated using Sanger sequencing of the amplicons, confirming the diagnosis in all symptomatic family members. Moreover, this variant was also found by Sanger sequencing in one other symptomatic family member and one young asymptomatic family member. The autosomal-dominant inheritance, the family history of IIP, and the evidence of a mutation occurring in part of the SFTPA1 gene all suggest a novel variant that causes FIP.
ER -
DOUBKOVÁ, Martina, Kateřina STAŇO KOZUBÍK, Lenka RADOVÁ, Michaela PEŠOVÁ, Jakub TRIZULJAK, Karol PÁL, Klára SVOBODOVÁ, Kamila RÉBLOVÁ, Hana SVOZILOVÁ, Zuzana VRZALOVÁ, Šárka POSPÍŠILOVÁ and Michael DOUBEK. A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia. \textit{HUMAN GENOME VARIATION}. LONDON: NATURE PUBLISHING GROUP, 2019, vol.~6, MAR, p.~nestrankovano, 6 pp. ISSN~2054-345X. Available from: https://dx.doi.org/10.1038/s41439-019-0044-z.
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