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Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.

ABSTRACT: Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset and the severity of the symptoms. In patients with severe MPS II, symptoms typically first appear between 2 and 5 years of age. Patients with severe MPS II usually die in the second decade of life although some patients with less severe disease have survived into their fifth or sixth decade. Here, we report the establishment of a preimplantation genetic diagnosis (PGD) strategy using multiplex nested polymerase chain reaction, direct sequencing, and linkage analysis. Unaffected embryos were selected via the diagnosis of a single blastomere, and a healthy boy was delivered by a female carrier of MPS II. This is the first successful application of PGD in a patient with MPS II in Korea.

SUBMITTER: Ko DS

PROVIDER: S-EPMC6919201 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature

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Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.

Ko Duck Sung DS Lee Sun-Hee SH Park Chan Woo CW Lim Chun Kyu CK

Clinical and experimental reproductive medicine 20191201 4

Mucopolysaccharidosis type II (MPS II) is a rare X-linked recessive lysosomal storage disease caused by mutation of the iduronate-2-sulfatase gene. The mutation results in iduronate-2-sulfatase deficiency, which causes the progressive accumulation of heparan sulfate and dermatan sulfate in cellular lysosomes. The phenotype, age of onset, and symptoms of MPS II vary; accordingly, the disease can be classified into either the early-onset type or the late-onset type, depending on the age of onset a ...[more]

PMID: 31813210

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Project description:Background and objective Mucopolysaccharidosis II (MPS II, Hunter syndrome, OMIM 309900) is an X-linked lysosomal storage disorder. MPS II is caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans (GAGs) dermatan sulfate and heparan sulfate in lysosomes. Excessive storage of these GAGs causes a variety of clinical manifestations: coarse facies, hearing loss, cardiac valve disease, restrictive and obstructive airway disease, hepatosplenomegaly, skeletal abnormalities, joint contractures, short stature. The study aims to describe clinical characteristics and to identify mutations in the IDS gene in Vietnamese patients with MPS II. Methods This case series report including 18 cases with MPS II diagnosed and treated at the National Hospital of Pediatric, Vietnam from December 2012 to May 2015. We describe clinical manifestations, radiological, biochemical evaluations and identified mutations of IDS gene of the patients confirmed by enzyme assay. Nine exons and their intronic boundaries of the IDS gene were sequenced using genomic DNA from the patient. Subsequently, to identify the recombination event with pseudogene, PCR analysis was carried out. Results Mean age of diagnosis was 8.2±5.9 years. The clinical symptoms included coarsened facial features (100%); mental retardation and joint stiffness (88.89%); bone deformation (66.67%); hepatomegaly (33.33%); valvular heart disease (22.22%); hearing loss (16.67%); obstructive airway disease (100%). Mutations of IDS gene were identified in 14/18 of cases (77.8%) including six cases (33.33%) had recombination event. Three reported causative mutations were identified: c.120-122del (p.L41del); c.1001A > G (p.D334G); c.879G > C (p.Q293H); and five novel one were identified in this study: c.166dup (p.D56Gfs*2); c.1124-1128dup (p.L377Gfs*10); c.473del (p.Y158fs); c.814C > T (p.Q272*) and c.1048A > T (p.N350Y). Conclusions Description of clinical characteristics to predict severity of phenotype and identification of mutations in the IDS gene help in making diagnosis and suitable treatment decision.

Project description:ObjectiveThe association between birth weight and infants' neurodevelopment is not well understood. We aimed to examine the impact of birth weight on neurodevelopment of infants at age 1-6 months using data from the Wuhan Healthy Baby Cohort (WHBC) study.Setting and participantsThis is a prospective cohort study of 4026 infants from the WHBC study who were born at the Women and Children's Hospital of Wuhan, China between October 2012 and September 2013 and who had complete healthcare records within 6 months after birth. Participants were categorised into three groups according to their birth weight: low birth weight (LBW; birth weight <2500 g), normal birth weight (2500 g ≤ birth weight <4000 g) and macrosomia (birth weight ≥4000 g).Main outcome measuresThe main outcomes were development quotient (DQ) and clinical diagnosis of neurodevelopmental delay. Both adjusted regression coefficients and ORs were estimated for LBW and macrosomia.ResultsOf the 4026 infants, 166 (4.12%) were of LBW and 237 (5.89%) were with macrosomia. Adjusted regression coefficients of LBW and macrosomia for gross motor DQ were -11.18 (95% CI -11.36 to 10.99) and 0.49 (95% CI 0.36 to 0.63), fine motor DQ -6.57 (95% CI -6.76 to -6.39) and -2.73 (95% CI -2.87 to -2.59), adaptability DQ -4.87 (95% CI -5.05 to -4.68) and -1.19 (95% CI -1.33 to -1.05), language DQ -6.23 (95% CI -6.42 to -6.05) and 0.43 (95% CI 0.29 to 0.57), and social behaviour DQ -6.82 (95% CI -7.01 to -6.64) and 1.10 (95% CI 0.96 to 1.24). Adjusted OR of LBW for clinical diagnosis of 'neurodevelopmental delay' in gross motor was 2.43 (95% CI 1.65 to 3.60), fine motor 1.49 (95% CI 1.01 to 2.19) and adaptability 1.56 (95% CI 1.06 to 2.31). LBW has no significant effects on 'neurodevelopmental delay' in language and social behaviour, and macrosomia has no significant effects on clinical diagnosis of 'neurodevelopmental delay' in all domains.ConclusionBoth LBW and macrosomia are associated with infants' DQ, and LBW increases the risk of being diagnosed with 'neurodevelopmental delay' in gross motor, fine motor and adaptability among infants aged 1-6 months.

Dataset Information

Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.

Publications

Birth of a healthy baby after preimplantation genetic diagnosis in a carrier of mucopolysaccharidosis type II: The first case in Korea.

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