A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F65269705%3A_____%2F19%3A00070713" target="_blank" >RIV/65269705:_____/19:00070713 - isvavai.cz</a>

Alternative codes found

RIV/00216224:14740/19:00108481

Result on the web

<a href="https://www.nature.com/articles/s41439-019-0044-z.pdf" target="_blank" >https://www.nature.com/articles/s41439-019-0044-z.pdf</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/s41439-019-0044-z" target="_blank" >10.1038/s41439-019-0044-z</a>

Result language

angličtina

Original language name

A novel germline mutation of the SFTPA1 gene in familial interstitial pneumonia

Original language description

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 &gt; 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 &gt; 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.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10603 - Genetics and heredity (medical genetics to be 3)

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2019

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Human genome variation

ISSN

2054-345X

e-ISSN

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Volume of the periodical

6

Issue of the periodical within the volume

MAR 5

Country of publishing house

GB - UNITED KINGDOM

Number of pages

6

Pages from-to

"UNSP 12"

UT code for WoS article

000468803900001

EID of the result in the Scopus database

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