Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.

American journal of medical genetics. Part A - 1 Jan 2006

Tredano Mohammed, Cooper David N, Stuhrmann Manfred, Christodoulou John, Chuzhanova Nadia A, Roudot-Thoraval Françoise, Boëlle Pierre-Yves, Elion Jacques, Jeanpierre Marc, Feingold Josué, Couderc Rémy, Bahuau Michel

Abstract excerpt

The SFTPB gene indel g.1549C > GAA (121ins2) accounts for about 2/3 of the mutant alleles underlying complete surfactant protein B deficiency. It is unclear, however, whether its prevalence is due to recurrent mutation or a founder effect. The underlying mutational mechanism was therefore sought through the analysis of local DNA sequence complexity. A relatively complex two-step process was proposed: the first...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Europe
Share to Founder Effect

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Frequency

Share to Haplotypes

Share to Introns

Share to Linkage Disequilibrium

Share to Mutagenesis, Insertional

Share to Pulmonary Surfactant-Associated Protein B

Source

Identifiers

PMID: 16333843
DOI: 10.1002/ajmg.a.31050

Genes

SFTPB
GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Origin of the prevalent SFTPB indel g.1549C > GAA (121ins2) mutation causing surfactant protein B (SP-B) deficiency.PMID 16333843Read ↗

Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene.Semantic proximity Read ↗

Comprehensive genetic variant discovery in the surfactant protein B gene.Semantic proximity Read ↗

Characterisation of variant alleles at the HumD21S11 locus implies unique Australasian genotypes and re-classification of nomenclature guidelines.Semantic proximity Read ↗

Population and disease-based prevalence of the common mutations associated with surfactant deficiency.Semantic proximity Read ↗

Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency.Semantic proximity Read ↗

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.Semantic proximity Read ↗

Population-based screening for rare mutations: high-throughput DNA extraction and molecular amplification from Guthrie cards.Semantic proximity Read ↗

An SP-B gene mutation responsible for SP-B deficiency in fatal congenital alveolar proteinosis: evidence for a mutation hotspot in exon 4.Semantic proximity Read ↗

Analysis of 40 sporadic or familial neonatal and pediatric cases with severe unexplained respiratory distress: relationship to SFTPB.Semantic proximity Read ↗

Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency.Semantic proximity Read ↗

Influence of genetic variability at the surfactant proteins A and D in community-acquired pneumonia: a prospective, observational, genetic study.Semantic proximity Read ↗

Surfactant protein B deficiency caused by a novel mutation involving multiple exons of the SP-B gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.