scholarly journals VP16.19: Prenatal diagnosis of a case of Noonan syndrome with RAF1 gene mutation using clinical‐exome sequencing

2021 ◽  
Vol 58 (S1) ◽  
pp. 168-168
Author(s):  
S.T. Vo ◽  
T.T. Le ◽  
C.X. Nguyen ◽  
T.N. Tran
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Noonan Syndrome ◽  
Clinical Exome Sequencing

scholarly journals First Infertile Case with CSTF2TGene Mutation

2020 ◽  
Vol 11 (4) ◽  
pp. 228-231 ◽  
Author(s):  
Ozlem Gorukmez ◽  
Orhan Gorukmez
Keyword(s):  
Male Infertility ◽  
Exome Sequencing ◽  
Gene Mutation ◽  
Nonsense Mutation ◽  
Genetic Factors ◽  
Male Mice ◽  
Infertile Patient ◽  
Infertile Men ◽  
Clinical Exome Sequencing ◽  
Homozygous Nonsense Mutation

Male infertility is multifactorial and presents with heterogeneous phenotypic features. Genetic factors are responsible for up to 15% of the male infertility cases. Loss of the <i>Cstf2t</i> gene in male mice results in infertility. No disease-associated mutations have been described for this gene in infertile men. Here, we report a patient diagnosed with infertility in whom a homozygous nonsense mutation in the <i>CSTF2T</i> gene was detected by clinical exome sequencing. This case is the first description of an infertile patient who has a homozygous <i>CSTF2T</i> mutation.

scholarly journals VP16.05: Prenatal diagnosis of Zellweger syndrome using clinical‐exome sequencing

2021 ◽  
Vol 58 (S1) ◽  
pp. 164-164
Author(s):  
S.T. Vo ◽  
T.T. Le ◽  
C.X. Nguyen ◽  
H.X. Tang ◽  
H.T. Nguyen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Exome Sequencing ◽  
Zellweger Syndrome ◽  
Clinical Exome Sequencing

An audit and insights from clinical exome sequencing in psychiatry: genotype-phenotype correlation

2020 ◽  
Author(s):  
Jayant Mahadevan ◽  
Reeteka Sud ◽  
Ravi Kumar Nadella ◽  
Vani P ◽  
Anand G Subramaniam ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Psychiatric Symptoms ◽  
Pathogenic Variant ◽  
Clinical Exome Sequencing ◽  
Mapt Gene ◽  
Nf1 Gene ◽  
Novel Variant ◽  
History Of ◽  
Atypical Presentations ◽  
Minor Physical Anomalies

BACKGROUND:Psychiatric syndromes have polymorphic symptomatology, and are known to be heritable. Psychiatric symptoms (and even syndromes) often occur as part of the clinical presentation in rare Mendelian syndromes. Clinical exome sequencing reports may help with refining diagnosis and influence treatment decisions, in addition to providing a window into the biology of brain and behaviour. We describe a clinical audit of 12 individuals who sought treatment at our hospital, and for whom targeted sequencing was ordered. Three cases are discussed in detail to demonstrate correlations between genotype and phenotype in the clinic.METHODS:Targeted Next-Generation Sequencing (NGS) was done using Clinical Exome Panel (TruSight One, Illumina) covering coding exons and flanking intronic sequences of 4811 genes associated with known inherited diseases. Variants detected were classified according to the American College for Medical Genetics (ACMG) recommendation for standards of interpretation and reporting of sequence variations.RESULTS:Ten out of twelve cases had at least one pathogenic variant. In one of these cases, we detected a known pathogenic variant in MAPT gene in a suspected FTD case, which helped us to confirm the diagnosis. In another case, we detected a novel variant predicted to be deleterious in NF1 gene. Identification of this mutation suggested a change in treatment for the patient, that was of benefit. The same patient also harboured a novel variant in the TRIO gene. This gene may be involved in biological processes that underlie the patient’s psychiatric illness.CONCLUSIONS:The cases discussed here exemplify different scenarios under which targeted exome sequencing can find meaningful application in the clinic: confirming diagnosis (MAPT variant), or modifying treatment (NF1). We suggest that clinical exome sequencing can be a helpful addition to a clinician’s toolkit when there are expediting factors to consider— such as early-onset, strong family history of mental illness, complex/atypical presentations and minor physical anomalies or neurocutaneous markers.

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