Whole Genome Sequencing – A case report

Vasilica Plaiasu 1, Catalina Cristina Cojocaru 2, Muraru Monica Octavia 2, Camil

Laurentiu Bohiltea 3
1 Genetics Department, INSMC Alessandrescu - Rusescu, Bucharest, Romania 2
Clinical Hospital Pantelimon Bucharest 3 Discipline of Medical Genetics, University of
Medicine and Pharmacy "Carol Davila", Bucharest, Romania
Background
We present the case of a 7 years old female patient, with dysmorphic features,
developmental delay, scoliosis (mild form), intellectual disability and muscular hypotonia. She
walks alone from age of 4 years. She speaks a few words.
Conventional karyotype from peripheral blood resulted normal as well as molecular
genetic testing by FISH for Angelman syndrome. Array CGH revealed a Xq27.1
microduplication without pathological significance.
Other evaluations that were normal include cerebral tomography, cerebral MRI, EEG and
electromyogram. The parents are asymptomatic.
Interpretation
By whole genome sequencing, there has not been detected any variant clinically relevant
to the described phenotype of the patient. Based on the clinical information provided, there has
been paid specific attention to the genes associated with myopia, scoliosis and developmental
delay (ACTB, ALDH18A1, ASXL1, ATAD3A, ATP6V0A2, B3GALT6, B3GLCT, CANT1, CASK,
CHST14, COL1A2, COL2A1, EP300, FBN2, FGFR3, HACE1, HERC1, HTT, KCNH1, KMT2D,
LAMB2, LIFR, LRP2, MAP2K2, NDN, NF1, NONO, PLOD3, POMT2, PTEN, RAI1,
SETD5, SKI, SOX5, TGFBR1, TGFBR2, TRAPPC11, UBE3A, USP9X, and VPS13B). There was
not detected any relevant variant in these genes for which an overall coverage of 100% was
achieved (coding region including +/- 10bp).
Limitations
Test results are interpreted in the context of clinical findings, family history and other
laboratory data. Only variations in genes potentially related to the proband’s medical condition
are reported. Rare polymorphisms may lead to false negative or positive results.
Misinterpretation of results may occur if the information provided is inaccurate or incomplete. If
results obtained do not match the clinical findings, additional testing should be considered.
Conclusion
By whole genome sequencing there was not detected any variant relevant to the described
phenotype of the patient.
Recommandations
Genetic counseling is recommended.
Cuvinte cheie: Karyotype, array CGH, phenotype, polymorphism