Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1 DOI

Longmei Wang,

Xuemei He,

Xianjing Huang

и другие.

Genetic Testing and Molecular Biomarkers, Год журнала: 2025, Номер unknown

Опубликована: Фев. 14, 2025

Background: Neurofibromatosis is an autosomal dominant genetic disease caused by the abnormal development of neural crests due to defects and difficult treat. Patients have a characteristic phenotype with neurofibromas as main features in different forms, which are accompanied multisystem involvement. The clinical symptoms this vary greatly, making treatment more difficult. Methods: Preimplantation testing (PGT) useful technique prevent chromosomal aneuploidies other disorders origin. PGT for monogenic diseases (PGT-M) now widely used effective strategy screen embryos or before implantation. In study, PGT-M was performed family history hereditary neurofibromatosis type 1 (NF1) offspring from inheriting disease-causing gene variant their parents. Trio-based whole-exome sequencing identify potential pathogenic variants associated NF1. Blastocyst biopsy on obtained intracytoplasmic sperm injection. Single-cell amplification biopsied cells targeted next-generation sequencing. Single nucleotide polymorphism markers both sides NF1 were selected disease-carrying haplotypes each embryo. Results: A novel heterozygotic frameshift variant, c.2033_2034delinsA(p.P678Qfs*10), identified proband. total five blastocysts biopsied, results showed that only one blastocyst unaffected euploid, remaining four all carrying paternal variants. normal transferred frozen-thawed embryo transfer cycle, live singleton pregnancy successfully achieved. At 18 weeks, amniocentesis test revealed karyotype, carried proband not detected. 40 proband's wife delivered healthy baby naturally. Conclusion: method detect chromosome copy number variation sites embryos, it provides suggestions possible innovations block transmission single-gene offspring, thereby preventing occurrence birth defects.

Язык: Английский

Preimplantation Genetic Testing in a Family with Neurofibromatosis Type 1 DOI

Longmei Wang,

Xuemei He,

Xianjing Huang

и другие.

Genetic Testing and Molecular Biomarkers, Год журнала: 2025, Номер unknown

Опубликована: Фев. 14, 2025

Background: Neurofibromatosis is an autosomal dominant genetic disease caused by the abnormal development of neural crests due to defects and difficult treat. Patients have a characteristic phenotype with neurofibromas as main features in different forms, which are accompanied multisystem involvement. The clinical symptoms this vary greatly, making treatment more difficult. Methods: Preimplantation testing (PGT) useful technique prevent chromosomal aneuploidies other disorders origin. PGT for monogenic diseases (PGT-M) now widely used effective strategy screen embryos or before implantation. In study, PGT-M was performed family history hereditary neurofibromatosis type 1 (NF1) offspring from inheriting disease-causing gene variant their parents. Trio-based whole-exome sequencing identify potential pathogenic variants associated NF1. Blastocyst biopsy on obtained intracytoplasmic sperm injection. Single-cell amplification biopsied cells targeted next-generation sequencing. Single nucleotide polymorphism markers both sides NF1 were selected disease-carrying haplotypes each embryo. Results: A novel heterozygotic frameshift variant, c.2033_2034delinsA(p.P678Qfs*10), identified proband. total five blastocysts biopsied, results showed that only one blastocyst unaffected euploid, remaining four all carrying paternal variants. normal transferred frozen-thawed embryo transfer cycle, live singleton pregnancy successfully achieved. At 18 weeks, amniocentesis test revealed karyotype, carried proband not detected. 40 proband's wife delivered healthy baby naturally. Conclusion: method detect chromosome copy number variation sites embryos, it provides suggestions possible innovations block transmission single-gene offspring, thereby preventing occurrence birth defects.

Язык: Английский

Процитировано

0