VENTRİKÜLER SEPTAL DEFEKTLİ BİR APERT SENDROMU OLGUSU

Apert syndrome is a congenital malformation syndrome which is associated withcraniosynostosis, craniofacial anomalies, syndactyly and congenital heart defects.Several cardiovascular abnormalities including atrial septal defect, ventricular septaldefect or patent ductus arteriosus were reported in 10% of the patients with Apertsyndrome. Herein, we report a case of Apert syndrome with ventricular septal defectdiagnosed at 2-month-old age and aim to emphasize the clinical and laboratoryfeatures of Apert syndrome in the light of this case. We also aim to attract the attentionof the pediatricians to the careful cardiologic examination in every newly diagnosedcase of Apert syndrome for early detection of possible heart defects.Apert sendromu, kraniyosinostoz, kraniyofasyal anomaliler, sindaktili ve konjenital kalpdefektleri ile giden bir konjenital malformasyon sendromudur. Apert sendromluhastaların %10'unda atriyal septal defekt, ventriküler septal defekt veya patent duktusarteriozus gibi çeşitli kardiyovasküler anormallikler bildirilmiştir. Bu yazıda 2 aylıkkentanı alan ventriküler septal defektli bir olgu sunuyor ve bu olgunun ışığında Apertsendromunun klinik ve laboratuar özelliklerini vurgulamayı amaçlıyoruz. Ayrıca yenitanı alan her Apert semdromlu olguda, olası kardiyak defektlerin erken teşhisi içindikkatlı bir kardiyak muayene yapılmasının gerekliliğine çocuk hekimlerinin dikkatiniçekmeyi amaçlıyoruz

The ASXL1 mutation p.Gly646Trpfs*12 found in a Turkish boy with Bohring-Opitz syndrome

Bohring‐Opitz syndrome (BOS, MIM #605039) is a rare and severe disease characterized mainly by intrauterine growth retardation, feeding difficulties, severe to profound developmental delay, nonspecific brain abnormalities, microcephaly, flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints (known as BOS posture) and distinctive facial features.1 Heterozygous ASXL1 truncating mutations have been identified as the main cause of BOS.1, 2 A recent publication 3 called the attention to the fact that mutations associated with BOS are also present in the ExAC (Exome Aggregation Consortium) database.4 As ASXL1 is one of the genes most commonly mutated during hematopoietic clonal expansion of cells, the authors hypothesized that the presence of this mutation in public databases could be due to somatic mosaicism, and they could confirm the hypothesis by manual examination of the ExAC WES reads

WATSON SYNDROME

Watson sendromu, café-au-lait lekeleri, pulmoner stenoz, mental retardasyon, boy kısalığıile karakterizedir. Bu makalede, moleküler temeli henüz tartışmalı olan ve seyrek görülen bubirlikteliği hatırlatmak amacıyla Watson sendromlu 13 yaşında bir kız olgu sunuldu.Watson syndrome is characterized by café-au-lait spots, pulmonary valvular stenosis,mental retardation and short stature. In this report, we present a thirteen-year-old girl withWatson syndrome to remind this disease which is seldom encountered and the molecularbasis is still controversial

COMPARISON OF APOLIPOPROTEIN E GENE POLYMORPHISM AND PLASMA LIPID AMOUNTS IN OBESE AND DISLIPIDEMIC TURKISH CHILDREN

Amaç: Apolipoprotein E gen polimorfizmi ile lipid metabolizması arasındaki ilişkipopulasyon çalışmalarında ortaya konulmuştur. Obez olan çocuklarda apolipoproteinE gen polimorfizmi ile plazma lipid düzeyleri arasındaki ilişki ve obezite ilebirlikte olan dislipidemilerde apolipoprotein E gen polimorfizmi araştırılmıştır.Yöntemler: İnsülin bağımlı diyabeti, karaciğer ve böbrek yetmezliği bulunmayan,plazma lipid düzeyini etkileyecek ilaç kullanmayan, primer obezitesi bulunan 57 çocukve normal kilolu 18 çocuk olmak üzere toplam 75 çocuğun plazma lipid düzeylerinebakılmış ve apolipoprotein E (Apo E) gen polimorfizmi polimeraz zincir reaksiyonu ileanaliz edilmiştir.Bulgular: Obez çocuklarda Apo AI düzeyleri yüksek saptanmıştır. Obez ve obezolmayan grupta E2/E3 dağılımı sırasıyla %10,5, %27,8; E3/E3 dağılımı sırasıyla %80,7,%61; E3/E4 dağılımı sırasıyla %7, %5,6 olarak bulunmuştur. Obez olan grupta E4/E4fenotipi, obez olmayan grupta E2/E4 fenotipi görülmemiştir. Obez olan grupta E2/E4dağılımı %1,8, obez olmayan grupta E4/E4 fenotip dağılımı %5,6 bulunmuştur. Allelsıklıkları obez ve obez olmayan grupta sırasıyla epsilon 2 (ε2) alleli için %6,1, %14;epsilon3 (ε3) alleli için %89,5, %78; epsilon 4 (ε4) alleli için %4,4, %8 olarak benzerbulunmuştur. Bütün gruplarda en sık allelin ε3 olduğu görülmüştür.Sonuç: Apo E allel ve fenotip dağılımının obez ve sağlıklı çocuklarda benzer olduğugözlenmiştir. Obez çocuklarda total kolesterol, Apo B, Apo AI ortalama düzeyi, obezolmayan çocuklara göre daha yüksek bulunmuş, trigliserid düzeyleri obez olan gruptaobez olmayan gruba göre belirgin yükseklik göstermiştir. Objective: The relationship between Apolipoprotein E (Apo E) gene polymorphismand lipid metabolism was presented by the population studies. The aim of this studywas to search the relationship between Apo E gene polymorphism and plasma lipidlevels in obese children and to search Apo E gene polymorphism in dislipidemiascoexisting with obesity. Methods: Seventy five children (57 were primary obese, 18 were normal weight) wereanalysed by polymerase chain reaction for Apo E gene polymorphism and plasmatriglyceride, HDL, LDL and Apo B amounts were evaluated. Excluding criterias for thestudy group are insulin dependent diabetes mellitus, hepatic and renal failure andmedication because of they might affect the lipid concentration in plasma.Results: The Apo AI levels were significantly elevated in obese children. HDL, LDLand Apo B levels were nearly at the same levels while triglycerides levels were muchhigher in obese group than non-obese group, but the difference was not foundstatistically significant. In obese and non-obese group the E2/E3 distribution was10.5% and 27.8%; E3/E3 was 80.7% and 61% and E3/E4 was 7% and 5.6% respectively.The E4/E4 phenotype was not determined in obese group while the E2/E4 phenotypewas not seen in non-obese group. E2/E4 distribution was 1.8% in obese children andE4/E4 distribution was 5,6% in non-obese children . Allele frequencies in obese andnon-obese children for epsilon 2 (ε2) were found as 6.1% and 14%; for epsilon 3 (ε3)89.5% and 78% and for epsilon 4 (ε4) 48% and 4% respectively. There was no significantdifference between the groups according to allele frequency (p>0.05). The ε3 was foundthe most frequent allele in all the groups.Conclusion: Apo E allele and phenotype distribution were found similar in obese andnon-obese children. The Apo AI levels were significantly elevated in obese children

İNSAN GENOMU PROJESİ : ETİK, LEGAL VE SOSYAL YÖNÜ

Biyoteknolojik gelişmeler yaşandıkça, bunların toplum ve birey üzerindeki etik, kanuni ve sosyal etkileri çok daha çarpıcı olarak gündeme gelecektir