Jaekel N, Bauer M, Behre B, Al-Ali HK
DOI: 10.37421/jmgm.2020.14.443
Introduction: Differential diagnosis of polyglobulia/erythrocytosis which is caused by deregulated erythropoiesis with an overproduction of red blood cells resulting in elevated hemoglobin and hematocrit levels is a diagnostic challenge.
Case Report: A 31-year-old man was referred to us with a suspected diagnosis of polycythemia vera (a clonal myeloproliferative neoplasm) because of erythrocytosis. One year before, he suffered from an ischemic central retinal vein occlusion of unknown cause. Aspirin treatment was initiated. His mother was diagnosed with a JAK2V617F negative polycythemia vera years earlier and treated with phlebotomies as well as aspirin. Apart from erythrocytosis, laboratory analysis showed a normal white blood cell and platelet counts. The differential blood picture and lactate dehydrogenase were within the normal ranges. Molecular testing for BCR-ABL, JAK2V617F and Calreticulin gene mutations by PCR was negative. Bone marrow biopsy was normal without signs for a myeloproliferative neoplasm. As almost all patients with polycythemia vera carry the phenotype-driver mutation JAK2V617F, further genetic testing for congenital causes of erythrocytosis was conducted. Mutations in the EPO- receptor gene were not found, but a very rare heterozygous point mutation in the beta-globin-chain [exon 2 (c. 119A>C) leading to a change in codon 40 (CAG>CCG)] was detected by next generation sequencing. This rare variant belongs to the high oxygen affinity hemoglobinopathies leading to a reduction of oxygen supply in tissues and an increase in red cell production.
Conclusion: The diagnosis of a JAK2 mutation negative polycythemia vera must always be questioned and congenital causes of erythrocytosis excluded as the therapeutic and prognostic consequences are immense. Rare variants of hemoglobinopathies, particularly those with high oxygen affinity need to be excluded by molecular testing.
Al-Buali Majed J, Al-Nahwi Fawatim A, Al-Nowaiser Naziha A, Al-Ali Rhaya A, Al-Khamis Abdullah H and Al-Bahrani Hassan M
DOI: 10.37421/jmgm.2020.14.444
Background: The chromosomal aneuploidy described as Cytogenetic condition characterized by abnormality in numbers of the chromosome. Aneuploid patient either trisomy or monosomy, can occur in both sex chromosomes as well as autosome chromosomes. However, double aneuploidies involving both sex and autosome chromosomes relatively a rare phenomenon. In present study, we reported a double aneuploidy (Down-Klinefelter syndrome) in infant from Saudi Arabia.
Materials and Methods: In the present investigation, chromosomal analysis (standard chromosomal karyotyping) and fluorescence in situ hybridization (FISH) were performed according to the standard protocols.
Results: Here, we report a single affected individual (boy) having Saudi origin, suffering from double chromosomal aneuploidy. The main presenting complaint is the obvious dysmorphic features suggesting Down syndrome. Chromosomal analysis and FISH revealed 48,XXY,+21, show the presence of three copies of chromosome 21, two copies of X chromosome and one copy of Y chromosome chromosomes.
Conclusion: Patients with Down syndrome must be tested for other associated sex chromosome aneuploidies. Hence, proper diagnosis is needed for proper management and the cytogenetic tests should be performed as the first diagnostic approach.
Ziani J, Douhi Z, Bennani M, Elloudi S, Baybay H and Mernissi FZ
DOI: 10.37421/jmgm.2020.14.445
A 20-year-old woman with a history of contact with animals. She has had a rash for 2 years. Clinical examination revealed an eruption of non-follicular papules and micropustules from the trunk and upper limbs, on the scalp of alopecic plaques with floury dander and a sign of positive traction.
Ziani J, Douhi Z, Bennani M, Elloudi S, Baybay H and Mernissi FZ
DOI: 10.37421/jmgm.2020.14.446
Madame F, 55 years old with a story; four miscarriages and two fetal deaths in utero. At 40 years old, she had a brutal motor deficit in the left lower limb and then in the homolateral upper limb associated with left hemifacialparaesthesia with complete recovery 10 years ago.
Sung J, Wu KC, Choi MC, Ma CHY, Lai ATL, Lin J and Kwong KWY
Stem cells are a group of undifferentiated cells capable of regenerating somatic cells through cell division and differentiation. Among the lineage of stem cells, human mesenchymal stem cells (hMSCs) are adult stem cells that can be isolated from human tissues such as bone marrow, adipose tissues and amniotic fluids. Due to the ability of high differentiability into multiple lineages of different cell types, it is highly valuable in regenerative medicine. However, low consistent maintenance of differentiability and potency of stem cells, as well as expensive cultivation of stem cells impede the research and application of hMSCs in current medical fields. Hence, it is urging to find a more defined, low cost culture media in expansion of hMSCs without reducing its differentiability and potency. In this study, we demonstrated a well-defined xeno-free conditioned medium containing human basic fibroblast growth factor (FGF2) for hMSCs cultivation. Our results showed enhanced proliferation activity and successful maintenance of the elongated and spiral morphologies of hMSCs cultured in our conditioned medium supplemented with 100 ng/mL FGF2. More importantly, the undifferentiability of hMSCs was also validated by FACS, microscopy, qPCR and Western Blotting. We believe the present finetuned growth medium could be utilized for mass production of hMSCs.
Al-Buali Majed J, Al-Sunini Muna M, Al-Faraj Jaffer S, Al-Shams Ahmed A, Al-Mohammed Salah M, Zaal Hani R and Al-Mousa Haider H
DOI: 10.37421/jmgm.2020.14.447
Background: Perlman syndrome is an uncommon genetic disorder grouped with overgrowth syndrome in which an abnormal increase in the size of the body or a body part of the infant often noticed at birth. The disorder, usually affects the kidneys as main findings. Perlman syndrome inherited as an autosomal recessive pattern. People with this condition are generally born with renal abnormalities also called renal hamartomas, nephroblastomatosis also been grouped with Renal cell carcinoma. The characteristic features include polyhydramnios, fetal overgrowth, including macrocephaly, neonatal macrosomia, visceromegaly mainly hepatomegaly and nephromegaly, dysmorphic facial features, and an increased risk for Wilms’ tumor at an early age. The prognosis of Perlman syndrome is poor with high morbidity and mortality rate.
Material and Methods: We report 3 months old female infant from Saudi origin product of consanguineous marriage with prenatal sonographic signs suggestive of Perlman Syndrome specifically polyhydramnios, bilateral nephromegaly with fetal ascites. The clinical course was marked by neonatal respiratory distress, cyanosis and refractory hypoxemia with chylothorax required mechanical ventilation. Frequent hospitalization since that due to frequent attacks of apnea and chest infections.
Discussion and Conclusion: The constellation of clinical presentation and radiological finding confirmed by Molecular investigations showed a homozygous variant c.1810C>T p.(Gln604*) in the DIS3L2 gene (OMIM : 614184 ) which is consistent with Autosomal Recessive Perlman syndrome.
Kajal Angras, Lindsay A. Bailey, Pallvi K. Singh, Amanda J. Young and John Ross
DOI: 10.37421/jmgm.2020.14.448
Objective: To examine the association of copy number variants (CNV) among fetuses with ultrasound-detected soft markers (USM).
Methods: This IRB-approved retrospective cohort study of fetuses with prenatal or children with postnatal chromosomal microarray analysis (CMA) sought to examine an association between clinically relevant CNV (classified as pathogenic CNV or variants of uncertain significance (VUS)) and USM in women who delivered at Geisinger between January 2010 and July 2018. The following USM were evaluated: choroid plexus cyst, thickened nuchal fold, absent or hypoplastic nasal bone, echogenic intracardiac focus, echogenic bowel, short long bones, and urinary tract dilation. Fetuses or children with known aneuploidy or a single gene disorder were excluded. Odds ratios (OR) of the association between CNV and USM were reported along with associated 95% confidence intervals (CI) and p-values. P values <0.05 were considered significant.
Results: Of the 348 fetuses/children, 89 (25.6%) had a clinically relevant CNV. Similar percentages of demographic, delivery and neonate characteristics were noted for those with a clinically relevant CNV and those with a normal microarray analysis. No statistically significant differences were noted among those fetuses/children with a clinically relevant CNV and structural anomaly (p = 0.52; OR 1.18, 95% CI 0.72-1.92), presence of one USM (p = 0.72; OR 1.52, 95% CI 0.79-2.92), or presence of more than one USM (p = 0.79; OR 1.56, 95% CI 0.28-8.72).
Conclusion: Our data supports a lack of association between a clinically relevant copy number variant and an ultrasound-detected soft marker. A small statistically insignificant increase in odds of a clinically relevant CNV was noted for those fetuses/children with one or more USM.
Shi Wen Jiang
DOI: 10.37421/jmgm.2020.14.449
I am delighted to introduce Journal of Molecular and Genetic Medicine (JMGM) a rapid peer reviewed Journal which has a broad spectrum findings in in molecular and genomic aspects of genomic variation and inherited disorders. I am pleased to announce that, all issues of volume 13 were published online well within the time and the print issues were also brought out and dispatched within 30 days of publishing the issue online during the year of 2019.
Tatsi P, Papoulidis I, Timotheou E, Chartomatsidou T, Alexiou M, Zafeiratis O, Najdecki R, Athanasiadis A and Papanikolaou EG
DOI: 10.37421/jmgm.2020.14.450
Preimplantation Genetic Testing (PGT) is a special technique in Assisted Reproduction Field that is applied to avoid a variety of hereditary disorders. This case report presents the first experience with rare X-linked Choroideremia disease (CHM), which leads to total blindness in male members of the family. To achieve a live birth in this case a total of 3 IVF procedures and 3 PGT cycles were performed. The data in our case offer the chance to couples suffering from rare genetic ophthalmo-neurological diseases to have healthy offspring.
