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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216224:14740/19:00108481

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

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

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

Human genome variation

ISSN

2054-345X

e-ISSN

—

Svazek periodika

6

Číslo periodika v rámci svazku

MAR 5

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

6

Strana od-do

"UNSP 12"

Kód UT WoS článku

000468803900001

EID výsledku v databázi Scopus

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