About: Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

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About: Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia Goto Sponge NotDistinct Permalink

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type	Academic Article research paper schema:ScholarlyArticle
isDefinedBy	Covid-on-the-Web dataset
has title	Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia
Creator	Matsumoto, Naomichi Agematsu, Kazunaga Akimoto, Takuma Ariga, Tadashi Cho, Kazutoshi Fujita, Atsushi Hayasaka, Itaru Ikemoto, Satoru Kanegane, Hirokazu Kobayashi, Norimoto Minakami, Hisanori Miyake, Noriko Miyamoto, Satoshi Nakata, Koh Ogata, Kazuhiro Shiina, Masaaki Tanaka-Kubota, Mari Tanino, Mishie Ueki, Masahiro Yamada, Masafumi
Source	Elsevier; Medline; PMC
abstract	Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding a surfactant phospholipid transporter in alveolar type II epithelial cells. GPAP is also caused by mutations in genes whose products are implicated in surfactant catabolism in alveolar macrophages (AMs). We performed whole-exome sequence analysis in a family affected by infantile-onset PAP with hypogammaglobulinemia without causative mutations in genes associated with PAP: SFTPB, SFTPC, ABCA3, CSF2RA, CSF2RB, and GATA2. We identified a heterozygous missense variation in OAS1, encoding 2,′5′-oligoadenylate synthetase 1 (OAS1) in three affected siblings, but not in unaffected family members. Deep sequence analysis with next-generation sequencing indicated 3.81% mosaicism of this variant in DNA from their mother’s peripheral blood leukocytes, suggesting that PAP observed in this family could be inherited as an autosomal-dominant trait from the mother. We identified two additional de novo heterozygous missense variations of OAS1 in two unrelated simplex individuals also manifesting infantile-onset PAP with hypogammaglobulinemia. PAP in the two simplex individuals resolved after hematopoietic stem cell transplantation, indicating that OAS1 dysfunction is associated with impaired surfactant catabolism due to the defects in AMs.
has issue date	2018-03-01(xsd:dateTime)
bibo:doi	10.1016/j.ajhg.2018.01.019
bibo:pmid	29455859
has license	hybrid-oa
sha1sum (hex)	094b66a0fea7dd24c63aa3cbeebbc27791fe6be0
schema:url	https://doi.org/10.1016/j.ajhg.2018.01.019
resource representing a document's title	Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia
has PubMed Central identifier	PMC5985284
has PubMed identifier	29455859
schema:publication	The American Journal of Human Genetics
resource representing a document's body	covid:094b66a0fea7dd24c63aa3cbeebbc27791fe6be0#body_text
is schema:about of	named entity 'PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA' named entity 'variation' named entity 'mutations' named entity 'hypogammaglobulinemia' named entity 'identified' named entity 'alveolar' named entity 'Heterozygous' named entity 'MUTATIONS' named entity 'DYSFUNCTION' named entity 'ONSET' named entity 'GATA2' named entity 'BUT' named entity 'OBSERVED' named entity 'HETEROZYGOUS' named entity 'PERIPHERAL BLOOD' named entity 'AMS' named entity 'INHERITED' named entity 'TRAIT' named entity 'PRODUCTS' named entity 'PULMONARY ALVEOLAR PROTEINOSIS' named entity 'SFTPC' named entity 'DUE TO' named entity 'SEQUENCE ANALYSIS' named entity 'IMPAIRED' named entity 'MUTATIONS' named entity 'TYPE II' named entity 'MOSAICISM' named entity 'UNAFFECTED' named entity 'AFFECTED' named entity 'THEIR' named entity 'HETEROZYGOUS' named entity 'EXOME SEQUENCE ANALYSIS' named entity 'AUTOSOMAL' named entity 'SIBLINGS' named entity 'CATABOLISM' named entity 'NEXT-GENERATION SEQUENCING' named entity 'INFANTILE' named entity 'HEMATOPOIETIC STEM CELL TRANSPLANTATION' named entity 'PAP' named entity 'DNA' named entity 'IDENTIFIED' named entity 'ONSET' named entity 'FAMILY' named entity 'DE NOVO' named entity 'SUBSTANCE' named entity 'ACCUMULATION' named entity 'CSF2RA' named entity 'LIKE' named entity 'BLOOD LEUKOCYTES' named entity 'SIMPLEX' named entity 'HYPOXEMIC RESPIRATORY FAILURE' named entity 'OLIGOADENYLATE' named entity 'SURFACTANT' named entity 'DOMINANT' named entity 'CAUSED BY' named entity 'COULD BE' named entity 'CHARACTERIZED' named entity 'OAS1' named entity 'OAS1' named entity 'UNRELATED' named entity 'ASSOCIATED WITH' named entity 'FAMILY MEMBERS'

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