scholarly journals Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co‐inheritance

2020 ◽  
Vol 8 (8) ◽  
Author(s):  
Alice Traversa ◽  
Enrica Marchionni ◽  
Agnese Giovannetti ◽  
Maria L. Genovesi ◽  
Noemi Panzironi ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Single Gene ◽  
Single Gene Disorder

SS disease is not a single gene disorder

Blood ◽  
2002 ◽  
Vol 100 (13) ◽  
pp. 4255-4255
Author(s):  
George J. Dover
Keyword(s):  
Single Gene ◽  
Single Gene Disorder

Prenatal DNA diagnosis of a single-gene disorder from maternal plasma

The Lancet ◽  
2000 ◽  
Vol 356 (9236) ◽  
pp. 1170 ◽  
Author(s):  
Hiroshi Saito ◽  
Akihiko Sekizawa ◽  
Taro Morimoto ◽  
Makoto Suzuki ◽  
Takumi Yanaihara
Keyword(s):  
Single Gene ◽  
Maternal Plasma ◽  
Single Gene Disorder ◽  
Dna Diagnosis

Is myotonic dystrophy a single-gene disorder?

1996 ◽  
Vol 24 (2) ◽  
pp. 510-513 ◽  
Author(s):  
K. J. Johnson ◽  
C. A. Boucher ◽  
S. K. King ◽  
C. L. Winchester ◽  
M. E. S. Bailey ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Single Gene ◽  
Single Gene Disorder

scholarly journals Value of Exome Sequencing in Diagnosis and Management of Recurrent Non-immune Hydrops Fetalis: A Retrospective Analysis

2021 ◽  
Vol 12 ◽  
Author(s):  
Xinyao Zhou ◽  
Jia Zhou ◽  
Xing Wei ◽  
Ruen Yao ◽  
Yingjun Yang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Pregnancy Outcome ◽  
Molecular Diagnosis ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Hydrops Fetalis ◽  
Intrauterine Fetal Death ◽  
Fetal Therapy ◽  
Inborn Errors ◽  
Prenatal Management

The purpose of the study was to use exome sequencing (ES) to study the contribution of single-gene disorders to recurrent non-immune hydrops fetalis (NIHF) and retrospectively evaluate the value of genetic diagnosis on prenatal management and pregnancy outcome. From January 2012 to October 2018, a cohort of 28 fetuses with recurrent NIHF was analyzed by trio ES. Fetuses with immune hydrops, non-genetic factors (including infection, etc.), karyotype, or CNV abnormalities were excluded. Variants were interpreted based on ACMG/AMP guidelines. Fetal therapy was performed on seven fetuses. Of the 28 fetuses, 10 (36%) were found to carry causal genetic variants (pathogenic or likely pathogenic) in eight genes (GBA, GUSB, GBE1, RAPSN, FOXC2, PIEZO1, LZTR1, and FOXP3). Five (18%) fetuses had variant(s) of uncertain significance (VUS). Of the 10 fetuses with definitive molecular diagnosis, five (50%) were diagnosed with inborn errors of metabolism. Among the seven fetuses who received fetal therapy, two had definitive molecular diagnosis and resulted in neonatal death. Among the remaining five fetuses with negative results, four had newborn survival and one had intrauterine fetal death. Trio ES could facilitate genetic diagnosis of recurrent NIHF and improve the prenatal management and pregnancy outcome.

scholarly journals Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting

2021 ◽  
Vol 12 ◽  
Author(s):  
Clair Engelbrecht ◽  
Michael Urban ◽  
Mardelle Schoeman ◽  
Brandon Paarwater ◽  
Ansia van Coller ◽  
...  
Keyword(s):  
Genetic Counselling ◽  
Molecular Diagnosis ◽  
Single Gene ◽  
Clinical Value ◽  
Inborn Errors ◽  
Detection Rates ◽  
Inborn Errors Of Immunity ◽  
Clinical Benefits ◽  
Gene Panels ◽  
Next Generation Sequencing Ngs

Primary immunodeficiency disorders (PIDs) are inborn errors of immunity (IEI) that cause immune system impairment. To date, more than 400 single-gene IEI have been well defined. The advent of next generation sequencing (NGS) technologies has improved clinical diagnosis and allowed for discovery of novel genes and variants associated with IEI. Molecular diagnosis provides clear clinical benefits for patients by altering management, enabling access to certain treatments and facilitates genetic counselling. Here we report on an 8-year experience using two different NGS technologies, namely research-based WES and targeted gene panels, in patients with suspected IEI in the South African healthcare system. A total of 52 patients’ had WES only, 26 had a targeted gene panel only, and 2 had both panel and WES. Overall, a molecular diagnosis was achieved in 30% (24/80) of patients. Clinical management was significantly altered in 67% of patients following molecular results. All 24 families with a molecular diagnosis received more accurate genetic counselling and family cascade testing. Results highlight the clinical value of expanded genetic testing in IEI and its relevance to understanding the genetic and clinical spectrum of the IEI-related disorders in Africa. Detection rates under 40% illustrate the complexity and heterogeneity of these disorders, especially in an African population, thus highlighting the need for expanded genomic testing and research to further elucidate this.

Neuromuscular and skeletal manifestations of neurofibromatosis

2011 ◽  
Author(s):  
Jeremy Fairbank
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Single Gene ◽  
Neurofibromatosis Type ◽  
Long Bone ◽  
Single Gene Disorder

♦ Neurofibromatosis type 1♦ Single gene disorder♦ Serious scoliosis♦ Pseudoarthrosis of a long bone♦ Hypertrophy of a part♦ An unusual radiographic lesion of bone.

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