OBJECTIVETo analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them.

METHODSThe 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing.

RESULTSFor pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation.

CONCLUSIONMutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.

Adult ; Asian Continental Ancestry Group ; genetics ; Base Sequence ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; Fetal Diseases ; diagnosis ; genetics ; Heterozygote ; Humans ; Iduronidase ; genetics ; Male ; Molecular Sequence Data ; Mucopolysaccharidosis I ; diagnosis ; embryology ; genetics ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.

Induced sputum testing is a non-invasive test that reflects the nature and extent of airway inflammation and plays an important role in the diagnosis, treatment and prognosis of chronic airway diseases. This article outlines the development history of induced sputum technology, introduces the principle and operation of induced sputum technology, evaluates its safety, summarizes the three main test components, elaborates the role of this technology in various chronic airway diseases, such as reflecting the type of airway inflammation, predicting the efficacy of medication, and combining it with transcriptomics to study disease mechanisms, and briefly summarizes its innovations and makes a vision for the future.

Induced sputum testing is a non-inva-sive test that reflects the nature and extent of air-way inflammation and plays an important role in the diagnosis,treatment and prognosis of chronic airway diseases.This article outlines the develop-ment history of induced sputum technology,intro-duces the principle and operation of induced spu-tum technology,evaluates its safety,summarizes the three main test components,elaborates the role of this technology in various chronic airway diseases,such as reflecting the type of airway in-flammation,predicting the efficacy of medication,and combining it with transcriptomics to study dis-ease mechanisms,and briefly summarizes its inno-vations and makes a vision for the future.