Homozygous Rare PARN Missense Mutation in Familial Pulmonary Fibrosis
نویسندگان
چکیده
منابع مشابه
REPORT OF FOUR CASES OF FAMILIAL IDIOPATHIC PULMONARY FIBROSIS
A 25 year old male and his 46 year old aunt presented with shortness of breath and a dramatic response to steroids. The other two patients are sisters with more advanced disease. One of these responded partially to steroids, while the other died within 4 months of treatment. The genetic basis and pathogenesis are discussed.
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BACKGROUND We recently described a novel autosomal recessive neurodevelopmental disorder with intellectual disability in four patients from two related Hutterite families. Identity-by-descent mapping localized the gene to a 5.1 Mb region at chromosome 16p13.3 containing more than 170 known or predicted genes. The objective of this study was to identify the causative gene for this rare disorder....
متن کاملFamilial pulmonary fibrosis.
Over a period of many years there has gradually accumulated, from Iola Sanatorium and Dispensary cases, a large teaching file of interesting and instructive chest x-ray films. This file, as far as present day classification of pulmonary diseases goes, is practically complete. However, it contains a relatively similar group of cases showing bilateral symmetrical involvement where the exact etiol...
متن کاملFamilial Interstitial Pulmonary Fibrosis.
In 1944 Hamman and Rich first described a disease that caused an acute diffuse interstitial fibrosis of the lungs, and which resulted in the death of four patients within six months of the onset of symptoms. Since then countless further cases have been reported in the literature, and our knowledge of the subject has advanced. It is recognized that the interstitial fibrotic process may be locali...
متن کاملACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
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ژورنال
عنوان ژورنال: American Journal of Respiratory and Critical Care Medicine
سال: 2019
ISSN: 1073-449X,1535-4970
DOI: 10.1164/rccm.201809-1632le