BALKAN JOURNAL OF MEDICAL GENETICS 是一份英文期刊，用于发表涉及医学遗传学所有分支的文章：人类细胞遗传学、分子遗传学、临床遗传学、免疫遗传学、肿瘤遗传学、药物遗传学、群体遗传学、遗传筛查和单基因和多基因疾病的诊断、产前和植入前基因诊断、遗传咨询、治疗和预防方面的进展。

The Balkan Journal of Medical Genetics is an English-language journal dedicated to publishing articles covering all branches of medical genetics, including human cytogenetics, molecular genetics, clinical genetics, immunogenetics, oncogenetics, pharmacogenetics, population genetics, genetic screening, and advancements in the diagnosis of single-gene and multi-gene diseases, prenatal and preimplantation genetic diagnosis, genetic counseling, treatment, and prevention.

《Balkan Journal of Medical Genetics》是一份英文期刊，专注于医学遗传学的各个领域，包括人类细胞遗传学、分子遗传学、临床遗传学、免疫遗传学、肿瘤遗传学、药物遗传学、群体遗传学、遗传筛查，以及单基因和多基因疾病的诊断、产前和植入前基因诊断、遗传咨询、治疗和预防等方面的最新进展。

Balkan Journal of Medical Genetics

Cardiomyopathies are a heterogeneous group of diseases predominantly affecting the heart muscle and often lead to progressive heart failure-related disability or cardiovascular death. Hypertrophic cardiomyopathy (HCM) is a cardiac muscle disorder mostly caused by the mutations in genes encoding cardiac sarcomere. Germ-line mutations in MYBPC3 causes hypertrophic cardiomyopathy (HCM). However, most of the HCM associated MYBPC3 mutations were truncating mutations. Extreme phenotypic heterogeneity was observed among HCM patients with MYBPC3 mutations. In this study, we investigated a Chinese man who presented with HCM. Whole exome sequencing identified a novel heterozygous deletion (c.3781_3785delGAGGC) in exon 33 of the MYBPC3 in the proband. This heterozygous variant causes frameshift (p.Glu1261Thrfs*3), which predicted to form a truncated MYBPC3 protein. The proband's father also carries this variant in a heterozygous state while the proband's mother did not harbor this variant. Here, we report on a novel deletion in the MYBPC3 gene associated with HCM. We also highlight the importance of whole exome sequencing for molecular diagnosis for the patients with familial HCM.

Y Peng

J Xu

Y Wang

J Zhao

L Zhang

Z Chen

Y Jiang

S Banerjee

Z Zhang

M Bai

A novel Loss-of-function Mutation in MYBPC3 Causes familial hypertrophic cardiomyopathy with extreme intrafamilial phenotypic heterogeneity

一种新的MYBPC3基因失活突变导致具有极端家族内表型异质性的家族性肥厚型心肌病

Heterozygous pathogenic and likely pathogenic sequence variants in the RUNX1 (Runt-related Transcription Factor 1) gene are a common genetic cause of decreased platelet count and/or platelet dysfunction and an increased risk of developing myelodysplasia and acute myeloid leukemia. The majority of causative variants are substitutions, which rarely occur de novo. The aim of this case report is to present a patient with congenital thrombocytopenia caused by a deletion variant in exon 9 in the RUNX1 gene.A one-month-old male infant was admitted to the Clinical Hospital Center Rijeka because of anemia and thrombocytopenia verified in the course of an acute viral infection. During follow-up, he occasionally had petechiae and ecchymoses on the lower extremities after mild trauma, with no other symptoms. The patient had persistent slightly decreased values of platelets with normal morphology, but with pathological aggregation with adrenaline and adenosine diphosphate. Due to the unclear etiology of persistent mild thrombocytopenia, he was referred for genetic testing at the age of five. Genomic DNA was isolated from the patient's peripheral blood and whole-exome sequencing was performed using the next-generation sequencing method. A heterozygous frameshift variant, c.1160delG (NM_001754.4), was identified in exon 9. The variant is classified as likely pathogenic.To the best of our knowledge, the heterozygous variant c.1160delG in the RUNX1 gene was first described in our patient. Although pathogenic variants in the RUNX1 genes are very rare, persistently low platelet counts of unclear etiology should raise suspicion of an underlying genetic disorder.

M Despotović

N Pereza

B Peterlin

S Ostojić

B Golob

A Maver

J Roganović

A novel likely pathogenic variant in the RUNX1 gene as the cause of congenital thrombocytopenia

一种新的RUNX1基因可能致病变异作为先天性血小板减少症的原因

APOE is one of the prominent genes involved in the increased risk of developing Alzheimer's disease, but its effect on cognition in patients who are not yet diagnosed with dementia or mild cognitive impairment is relatively understudied. We aimed to examine the effect of ApoE4 on cognitive performance in unimpaired middle-aged and elderly persons.Our study included 51 cognitively unimpaired participants divided into ApoE4 positive patients and controls by APOE genotyping. The following clinical and demographic characteristics were collected: age, gender, education, social status, BMI, history of medical or psychiatric disorders. Patients with current anxiety or depressive disorders were excluded. Cognitive function was evaluated using MMSE, Rey Auditory-Verbal Learning Test, Rey Complex Figure test, TMT A and B and verbal fluency test. The two groups were matched for age, sex, and education. Categorial data was analyzed using Chi-Square and continuous data using Student-T test (parametric variables) or Mann-Whitney test (non-parametric variables). Statistical significance was considered at p≤.05.There were 11 (21.6%) ApoE4 positive patients and 40 (78.4%) controls. There were no significant differences between the groups regarding socio-demographic and clinical characteristics. The ApoE4 positive group performed slightly worse on cognitive evaluations compared to controls but only the mean scores of the Rey Complex Figure Test - Memory reached statistical significance (p=.019).Cognitive evaluation generally rendered lower scores in the ApoE4 group compared to the control group. However, only visual memory impairment scores were significantly lower in the ApoE4 positive individuals than in controls.

N.A. Pavel

M.R. Paun

P.V. Matei

I. Dutu

C. Tudose

APOE4 Status and cognitive function in middle-aged and elderly people

APOE4状态与中老年人群认知功能

ABSTRACT Ewing sarcoma (ES), described as a diffuse endothelioma of the bone, is divided into two categories: osseous and extraosseous, which mainly affects adolescents. Extraosseous Ewing Sarcomas (EES) are rare tumors originating from soft tissues. Their clinical presentation depends mainly on the primary location of the tumor and are highly chemosensitive and radiosensitive. The purpose of this study was to describe the clinical characteristics and outcomes of 3 children with EES and uncommon presentation treated in our Unit. The diagnosis of EES was confirmed by biopsy and cytogenetic analysis with fluorescence in situ hybridization (FISH). Surgical excision was planned as primary treatment, followed by adjuvant chemotherapy according to EURO-E.W.I.N.G protocol. To date, all patients are alive, 1, 3 and 4 years after completion of treatment, with no signs of recurrence or metastasis.

M. Ioannidou

E. Tsotridou

E. Samoladas

A. Tragiannidis

K. Kouskouras

D. Sfougaris

I. Spyridakis

C. Foroulis

A. Galli-Tsinopoulou

E. Hatzipantelis

Unusual Manifestation of Extraosseous Ewing Sarcoma: Report of 3 Cases

骨外尤文肉瘤的罕见表现：3例报告

Holoprosencephaly (HPE) is the most common embryonic forebrain developmental anomaly. It involves incomplete or absent division of the prosencephalon into two distinct cerebral hemispheres during the early stages of organogenesis. HPE is etiologically heterogeneous, and its clinical presentation is very variable. We report a case of a 7 month old female infant, diagnosed with non-syndromic semilobar holoprosencephaly, caused by a novel, de novo pathogenic variant in ZIC2 - one of the most commonly mutated genes in non-syndromic HPE coding for the ZIC2 transcription factor. The patient presented with microcephaly, mild facial dysmorphic features, central hypotonia and spasticity on all four extremities. Ultrasound imaging demonstrated the absence of septum pellucidum, semilobar fusion of the hemispheres and mega cisterna magna and brain MRI with confirmed the diagnosis of HPE. Early diagnosis and management are important for the prevention and treatment of complications associated with this condition.

D Nonkulovski

A Sofijanova

T Spasovska

Milanovski Gorjan

Lj Muaremoska-Kanzoska

T Arsov

Semilobar Holoprosencephaly Caused by a Novel and De NovoZIC2Pathogenic Variant

半叶型全前脑畸形由一种新的从头ZIC2致病变异引起

Abstract In this study, we aimed to investigate the levels of Fibroblast Growth Factor-8 (FGF-8), FGF-10, FGF-Receptor-2 (FGFR-2), Androgen receptor (AR), Estrogen receptor alpha and beta (ER-α and ER-β) in the foreskins of children with and without hypospadias. Methods Samples from the foreskins of 20 children with hypospadias and 20 skin samples from children without hypospadias between the ages of 14 months and 12 years were taken during circumcision or hypospadias correction surgery for immunohistochemical (IHC) examination of these markers. In IHC examination, it was shown that ER-α, ER-β and AR receptors were more involved in the foreskin of children with hypospadias than in the fore-skin of without hypospadias children, and FGF-8, FGF-10 and FGFR-2 were lower (p&lt;0.05). ER and AR uptake were higher in hypospadias tissue samples and FGF-8, FGF-10, and FGFR-2 uptakes were lower compared to without hypospadias children’s tissue samples, and these factors were supported by affecting each other in the development of hypospadias. The limited number of studies on this subject in the literature and the contradictory results of the findings indicate that more research should be done on this subject in the future.

N Emaratpardaz

Z Turkyilmaz

R Karabulut

D Dayanir

C Kaya

AAE Sert

G Arkan

FA Ucaner

A Kapisiz

S Eryilmaz

A Atan

K Sonmez

Comparison of FGF-8, FGF-10, FGF-Receptor 2, Androgen Receptor, Estrogen Receptor-A and SS in Healthy and Hypospadiac Children

健康与尿道下裂儿童中FGF-8、FGF-10、FGF受体2、雄激素受体、雌激素受体-A及SS的比较研究

Abstract Congenital malformations can be found in all organ systems of a newborn. Almost two-thirds of congenital malformations have an unknown cause. There are minor (mM) and major (MM) congenital malformations. Searching for minor malformations has its vital place in everyday neonatology practice. Minor malformations are defined as physical variants that have no medical consequences and are mostly located on the face and distal parts of the extremities and are easily noticed. Minor malformations occur in approximately 15% of newborns. Minor congenital malformations are of great importance because they can be an indicator of the existence of major congenital malformations and syndromes. In a one-year retrospective study that analyzed the occurrence of 38 minor malformations through the year 2023 at the University Clinical Hospital of Mostar, there was an incidence of 10.59% of minor malformations. The most frequently recorded minor malformation was deep a sacral dimple at 44.72%, then poorly modeled ears at 15.08%, and moderate rectal diastasis at 14.58%. Three or more minor congenital malformations indicate one or more major congenital malformations. Major congenital malformations are severe structural defects of tissues and organs that endanger life, create serious functional disturbances and hinder the development of the child. In our country, there is currently a recorded incidence of 8.04%. The search for minor malformations in the newborn period is of great importance to children and the whole family, and the search must not be neglected.

S Grubeša Raguž

M Jerković Raguž

J Brzica

S Džida

S Mikulić

A Kolobarić

T Galić

Meaning and Clinical Interest of Minor Malformations and Normal Variants in Neonatology

新生儿学中轻微畸形和正常变异的含义及临床意义

Congenital diarrheal disorders (CDD) are a group of rare inherited intestinal disorders, among which CDD7 was recently identified to be associated with only 24 mutations in gene coding for diacylglycerol-acyltransferase 1 (

C Shi

XL Liu

XN Li

YJ Zhao

Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience

先天性腹泻病7中鉴定的新型DGAT1突变：一例治疗经验报告

Abstract Haemoglobin (Hb) Malay is variant haemoglobin with a β ++ thalassemia phenotype. The prevalence of Hb Malay in the Malaysian population was 5.5%. We describe a 58-year-old male who presented with symptomatic anaemia to the Hospital Universiti Sains Malaysia. Further history revealed that the patient had anaemia since the age of 28, and on regular follow-up at other hospital. Physical examination revealed pallor, jaundice and hepatosplenomegaly. The full blood count and peripheral blood smear showed hypochromic microcytic anaemia with anisopoikilocytosis, and many target cells. High-performance liquid chromatography results showed a β thalassemia trait. However, the diagnosis does not alight with the patient’s condition. Bone marrow aspirate was completed and showed reactive changes and erythroid hyperplasia. A molecular test was then performed for β globin gene mutation detection using Multiplex Amplification Refractory Mutation System (M-ARMS) PCR method. This revealed the result as homozygous codon 19 mutation or Hb Malay. Therefore, in this case report we would like to highlight the laboratory approaches, the challenges faced by the usual haematological investigations and the importance role of molecular testing in the diagnosis of severe anaemia.

R Bahar

Z Zulkafli

RH Zulkeflee

MN Hassan

S Wan Ab Rahman Wan

NH M Noor

M Ramli

A Hussin

AD Abdullah

S Iberahim

M Abdullah

S M Yusoff

The Importance of Molecular Biological Analysis for the Laboratory Diagnostic of Homozygous Haemoglobin Malay

分子生物学分析在纯合型血红蛋白马来诊断中的重要性

Chronic lymphocytic leukemia (CLL) is the most common leukemia in adults. One of the best established CLL prognostic markers is the somatic hypermutational status of the

A Yosifova

I Micheva

M Donchev

S Tincheva

S Ormandjiev

J Genova

Z Pavlova

A Todorova

IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria

保加利亚CLL患者IGHV突变状态：东北保加利亚高比例未突变CLL

Abbreviation	Balkan. J. Med. Genet.
Journal Impact	0.50
Quartiles(Global)	GENETICS & HEREDITY(Q4)

ISSN	1311-0160, 2199-5761
h-index	17

Publication Information	Publisher: Macedonian Academy of Sciences and Arts，Publishing cycle: Semiannual，Journal Type: journal，Open Access Journals: Yes
Basic data	Year of publication: 2000，Proportion of original research papers: 92.86%，Self Citation Rate:20.00%， Gold OA Rate: 100.00%
Journal Fees	$Details
Average review cycle	网友分享经验：>12周，或约稿
Average recruitment ratio	网友分享经验：容易

Balkan Journal of Medical Genetics

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