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Prenatal genetic testing for familial severe congenital protein C deficiency.

ABSTRACT: Severe congenital protein C (PC) deficiency is an autosomal recessive hereditary thrombophilia caused by mutations in PROC. The case manifested severe purpura fulminans, intracranial thrombosis or hemorrhage within 4 days after birth, resulting in blindness. We report the identification of inherited compound heterozygous mutations, including a novel nonsense mutation in PROC, and a prenatal genetic test for a subsequent pregnancy. Prenatal diagnosis may facilitate preemptive and radical therapy for severe PC deficiency.

SUBMITTER: Tairaku S

PROVIDER: S-EPMC4785544 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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Prenatal genetic testing for familial severe congenital protein C deficiency.

Tairaku Shinya S Taniguchi-Ikeda Mariko M Okazaki Yoko Y Noguchi Yoriko Y Nakamachi Yuji Y Mori Takeshi T Kubokawa Ikuko I Hayakawa Akira A Shibata Akio A Emoto Tomomi T Kurahashi Hiroki H Toda Tatsushi T Kawano Seiji S Yamada Hideto H Morioka Ichiro I Iijima Kazumoto K

Human genome variation 20150625

Severe congenital protein C (PC) deficiency is an autosomal recessive hereditary thrombophilia caused by mutations in PROC. The case manifested severe purpura fulminans, intracranial thrombosis or hemorrhage within 4 days after birth, resulting in blindness. We report the identification of inherited compound heterozygous mutations, including a novel nonsense mutation in PROC, and a prenatal genetic test for a subsequent pregnancy. Prenatal diagnosis may facilitate preemptive and radical therapy ...[more]

PMID: 27081530

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Genetic Testing and Pregnancy Outcome Analysis of 362 Fetuses with Congenital Heart Disease Identified by Prenatal Ultrasound.

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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

Project description:ContextFamilial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases.ObjectiveA locus on chromosome 8 has previously been linked to the disease in three families, but no underlying gene defect has to date been identified.DesignThe study design comprised single-nucleotide polymorphism genotyping and mutation detection.SettingThe study was conducted at secondary and tertiary referral centers.PatientsEighty probands from families referred for investigation of the genetic cause of FGD participated in the study.InterventionsThere were no interventions.ResultsAnalysis by single-nucleotide polymorphism array of the genotype of one individual with FGD previously linked to chromosome 8 revealed a large region of homozygosity encompassing the steroidogenic acute regulatory protein gene, STAR. We identified homozygous STAR mutations in this patient and his affected siblings. Screening of our total FGD patient cohort revealed homozygous STAR mutations in a further nine individuals from four other families.ConclusionsMutations in STAR usually cause lipoid congenital adrenal hyperplasia, a disorder characterized by both gonadal and adrenal steroid deficiency. Our results demonstrate that certain mutations in STAR (R192C and the previously reported R188C) can present with a phenotype indistinguishable from that seen in FGD.

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Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis.

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Project description: Not available

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Investigation of Genetic Alterations in Congenital Heart Diseases in Prenatal Period.

Project description:The prenatal diagnosis of congenital heart disease (CHD) is important because of mortality risk. The onset of CHD varies, and depending on the malformation type, the risk of aneuploidy is changed. To identify possible genetic alterations in CHD, G-banding, chromosomal microarray or if needed DNA mutation analysis and direct sequence analysis should be planned. In present study, to identify genetic alterations, cell culture, karyotype analysis, and single nucleotide polymorphism, array analyses were conducted on a total 950 samples. Interventional prenatal genetic examination was performed on 23 (2, 4%, 23/950) fetal CHD cases. Chromosomal abnormalities were detected in 5 out of 23 cases (21, 7%). Detected chromosomal abnormalities were 10q23.2 deletion, trisomy 18, 8p22.3-p23.2 deletion, 8q21.3-q24.3 duplication, 11q24.2q24.5 (9 Mb) deletion, and 8p22p12 (16.8 Mb) deletion. Our study highlights the importance of genetic testing in CHD.

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Familial congenital unilateral cerebral ventriculomegaly: Delineation of a distinct genetic disorder.

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Patient accounts of diagnostic testing for familial hypercholesterolaemia: comparing responses to genetic and non-genetic testing methods.

Project description:BackgroundContinuing developments in genetic testing technology together with research revealing gene-disease associations have brought closer the potential for genetic screening of populations. A major concern, as with any screening programme, is the response of the patient to the findings of screening, whether the outcome is positive or negative. Such concern is heightened for genetic testing, which it is feared may elicit stronger reactions than non-genetic testing.MethodsThis paper draws on thematic analysis of 113 semi-structured interviews with 39 patients being tested for familial hypercholesterolaemia (FH), an inherited predisposition to early-onset heart disease. It examines the impact of disease risk assessments based on both genetic and non-genetic information, or solely non-genetic information.ResultsThe impact of diagnostic testing did not seem to vary according to whether or not genetic information was used. More generally, being given a positive or negative diagnosis of FH had minimal discernible impact on people's lives as they maintained the continuity of their beliefs and behaviour.ConclusionsThe results suggest that concerns about the use of genetic testing in this context are unfounded, a conclusion that echoes findings from studies in this and other health contexts.

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