Limits...
A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti.

Kim MJ, Lyu SW, Seok HH, Park JE, Shim SH, Yoon TK - Clin Exp Reprod Med (2014)

Bottom Line: The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother.The patient delivered healthy twin babies during the 37th week of gestation.This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Korea.

ABSTRACT
The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

No MeSH data available.


Related in: MedlinePlus

Polymerase chain reaction-direct sequencing in the IKBKG gene of the patient: a pathogenic mutation is present in IKBKG exon 9(1308_1309insCCCCTTG(p.Ala438ProfsTer26)), in which the seven-base sequence CCCCTTG was inserted at position c.1309, resulting in a frameshift (the 438th amino acid changed from alanine to proline) and a premature stop codon at the 464th codon. NEMO, nuclear factor-kappa B (NF-κB) essential modulator; IKBKG, inhibitor of κB kinase gamma; PB1, first polar body.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4295944&req=5

Figure 1: Polymerase chain reaction-direct sequencing in the IKBKG gene of the patient: a pathogenic mutation is present in IKBKG exon 9(1308_1309insCCCCTTG(p.Ala438ProfsTer26)), in which the seven-base sequence CCCCTTG was inserted at position c.1309, resulting in a frameshift (the 438th amino acid changed from alanine to proline) and a premature stop codon at the 464th codon. NEMO, nuclear factor-kappa B (NF-κB) essential modulator; IKBKG, inhibitor of κB kinase gamma; PB1, first polar body.

Mentions: A 29-year-old patient with known IP was referred to Fertility Center of CHA Gangnam Medical Center for fertility therapy. She had manifested skin erythema followed by vesicles as a neonate. Patchy hyperpigmented skin lesions subsequently appeared in multiple sites. At the time of her first visit to our institution, she had only mild skin lesions involving scattered hyperpigmented spots in the abdomen and upper legs. She had experienced three early spontaneous pregnancy losses during three years of marriage. No anatomical, immunological, thrombophilic or endocrinological factors contributed to recurrent spontaneous abortions in this patient. She had been clinically diagnosed with IP by Landy and Donnai's criteria [11] and by skin biopsy at ten years of age in the dermatology department of the referring hospital, with no family history. A cytogenetic analysis of this couple revealed normal karyotypes, but confirmatory molecular genetic analysis of IP had not been completed when assisted reproductive technology was applied. After genetic counseling, she was scheduled for an IVF cycle with PGS using aCGH to select euploid male embryos. Simultaneously, mutation screening was performed using polymerase chain reaction-direct sequencing to identify her pathogenic mutation, which is crucial for further genetic counseling and prenatal diagnosis. Genomic DNA was extracted from a blood sample. All exons and intron boundaries of the IKBKG gene were analyzed and a pathogenic mutation was identified in IKBKG exon 9 (1308_1309insCCCCTTG(p.Ala438ProfsTer26)). A seven-base insertion of CCCCTTG at position c.1309 was identified, which had resulted in a frameshift in which the 438th amino acid was changed from alanine to proline and a premature stop codon occurred at the 464th codon (Figure 1).


A healthy delivery of twins by assisted reproduction followed by preimplantation genetic screening in a woman with X-linked dominant incontinentia pigmenti.

Kim MJ, Lyu SW, Seok HH, Park JE, Shim SH, Yoon TK - Clin Exp Reprod Med (2014)

Polymerase chain reaction-direct sequencing in the IKBKG gene of the patient: a pathogenic mutation is present in IKBKG exon 9(1308_1309insCCCCTTG(p.Ala438ProfsTer26)), in which the seven-base sequence CCCCTTG was inserted at position c.1309, resulting in a frameshift (the 438th amino acid changed from alanine to proline) and a premature stop codon at the 464th codon. NEMO, nuclear factor-kappa B (NF-κB) essential modulator; IKBKG, inhibitor of κB kinase gamma; PB1, first polar body.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4295944&req=5

Figure 1: Polymerase chain reaction-direct sequencing in the IKBKG gene of the patient: a pathogenic mutation is present in IKBKG exon 9(1308_1309insCCCCTTG(p.Ala438ProfsTer26)), in which the seven-base sequence CCCCTTG was inserted at position c.1309, resulting in a frameshift (the 438th amino acid changed from alanine to proline) and a premature stop codon at the 464th codon. NEMO, nuclear factor-kappa B (NF-κB) essential modulator; IKBKG, inhibitor of κB kinase gamma; PB1, first polar body.
Mentions: A 29-year-old patient with known IP was referred to Fertility Center of CHA Gangnam Medical Center for fertility therapy. She had manifested skin erythema followed by vesicles as a neonate. Patchy hyperpigmented skin lesions subsequently appeared in multiple sites. At the time of her first visit to our institution, she had only mild skin lesions involving scattered hyperpigmented spots in the abdomen and upper legs. She had experienced three early spontaneous pregnancy losses during three years of marriage. No anatomical, immunological, thrombophilic or endocrinological factors contributed to recurrent spontaneous abortions in this patient. She had been clinically diagnosed with IP by Landy and Donnai's criteria [11] and by skin biopsy at ten years of age in the dermatology department of the referring hospital, with no family history. A cytogenetic analysis of this couple revealed normal karyotypes, but confirmatory molecular genetic analysis of IP had not been completed when assisted reproductive technology was applied. After genetic counseling, she was scheduled for an IVF cycle with PGS using aCGH to select euploid male embryos. Simultaneously, mutation screening was performed using polymerase chain reaction-direct sequencing to identify her pathogenic mutation, which is crucial for further genetic counseling and prenatal diagnosis. Genomic DNA was extracted from a blood sample. All exons and intron boundaries of the IKBKG gene were analyzed and a pathogenic mutation was identified in IKBKG exon 9 (1308_1309insCCCCTTG(p.Ala438ProfsTer26)). A seven-base insertion of CCCCTTG at position c.1309 was identified, which had resulted in a frameshift in which the 438th amino acid was changed from alanine to proline and a premature stop codon occurred at the 464th codon (Figure 1).

Bottom Line: The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother.The patient delivered healthy twin babies during the 37th week of gestation.This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

View Article: PubMed Central - PubMed

Affiliation: Department of Obstetrics and Gynecology, Fertility Center of CHA Gangnam Medical Center, CHA University College of Medicine, Seoul, Korea.

ABSTRACT
The purpose of this study is to report a successful twin pregnancy and delivery in a female patient with X-linked dominant incontinentia pigmenti (IP) who underwent assisted reproductive technology followed by preimplantation genetic screening (PGS). A 29-year-old female with IP had a previous history of recurrent spontaneous abortion. A molecular analysis revealed the patient had a de novo mutation, 1308_1309insCCCCTTG(p.Ala438ProfsTer26), in the inhibitor of the kappa B kinase gamma gene located in the Xq28 region. IVF/ICSI and PGS was performed, in which male embryos were sexed using array-based comparative genomic hybridization (aCGH). After IVF/ICSI and PGS using aCGH on seven embryos, two euploid male blastocysts were transferred with a 50% probability of a viable male pregnancy. The dizygotic twin pregnancy was confirmed and the amniocentesis results of each twin were normal with regard to the mutation found in the mother. The patient delivered healthy twin babies during the 37th week of gestation. This case shows the beneficial role of PGS in achieving a successful pregnancy through euploid male embryo gender selection in a woman with X-linked dominant IP with a history of multiple male miscarriages.

No MeSH data available.


Related in: MedlinePlus