Kenan Delil

Marmara University

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Fuad Samadov

Marmara University

Bülent Hacıhamdioğlu

Istanbul Aydın University

Pınar Ata

Marmara University

Ibrahim Sarı́

Memorial Sisli Hospital

Bilgen Bilge Geçkinli

Marmara University

Halil Ataş

Marmara University

Halil Gürhan Karabulut

Ankara University

Ahmet Arman

Marmara University

Esra Arslan Ateş

Istanbul University-Cerrahpaşa

Mehmet Ali Söylemez

Marmara University

Cooperative Institutions

Marmara University

Sağlık Bilimleri Üniversitesi

Kartal Koşuyolu High Specialization Training and Research Hospital

University of Health Science

Ankara University

Istanbul University

Ümraniye Eğitim ve Araştırma Hastanesi

ENT and Allergy

Ministry of Health

Pediatrics and Genetics

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JAGN1 Deficient Severe Congenital Neutropenia: Two Cases from the Same Family

Journal of Clinical Immunology (2015)

Safa Barış Elif Karakoç-Aydıner Ahmet Özen Kenan Delil Ayça Kıykım

Congenital Neutropenia

Abnormality

Reversion

Medical microbiology

10.1007/s10875-015-0156-2

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Citations (23)

Biallelic Mutations in <b><i>DNAJB11</i></b>are Associated with Prenatal Polycystic Kidney Disease in a Turkish Family

Molecular Syndromology (2021)

Esra Arslan Ateş Ayberk Türkyılmaz Kenan Delil Ceren Alavanda Mehmet Ali Söylemez

Polycystic kidney disease (PKD) is a life-threatening condition resulting in end-stage renal disease. Two major forms of PKD are defined according to the inheritance pattern. Autosomal dominant PKD (ADPKD) is characterized by renal cysts, where nearly half of the patients suffers from renal failure in the 7th decade of life. Autosomal recessive PKD (ARPKD) is a rarer and more severe form presenting in childhood. Whole-exome sequencing (WES) analyses was performed to investigate molecular causes of the disease in the fetus. In this study, we present 2 fetuses prenatally diagnosed with PKD in a consanguineous family. WES analysis of the second fetus revealed a homozygous variant (c.740+1G>A) in DNAJB11 which is related to ADPKD. This study reveals that DNAJB11 biallelic mutations may cause an antenatal severe form of ARPKD and contributes to understanding the DNAJB11-related ADPKD phenotype. The possibility of ARPKD due to biallelic mutations in ADPKD genes should be considered in genetic counseling.

PKD1

Nephronophthisis

10.1159/000513611

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Citations (3)

Case of fatal heart failure with biventricular noncompaction, genital skeletal abnormalities and mental retardation

Anadolu Kardiyoloji Dergisi/The Anatolian Journal of Cardiology (2014)

Halil Ataş Fuad Samadov Ibrahim Sarı́Kenan Delil

Sex organ

10.5152/akd.2014.5722

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Citations (2)

22q11 deletion syndrome: current perspective

The Application of Clinical Genetics (2015)

Bülent Hacıhamdioğlu Duygu Övünç Hacıhamdioğlu Kenan Delil

Abstract: Chromosome 22q11 is characterized by the presence of chromosome-specific low-copy repeats or segmental duplications. This region of the chromosome is very unstable and susceptible to mutations. The misalignment of low-copy repeats during nonallelic homologous recombination leads to the deletion of the 22q11.2 region, which results in 22q11 deletion syndrome (22q11DS). The 22q11.2 deletion is associated with a wide variety of phenotypes. The term 22q11DS is an umbrella term that is used to encompass all 22q11.2 deletion-associated phenotypes. The haploinsufficiency of genes located at 22q11.2 affects the early morphogenesis of the pharyngeal arches, heart, skeleton, and brain. TBX1 is the most important gene for 22q11DS. This syndrome can ultimately affect many organs or systems; therefore, it has a very wide phenotypic spectrum. An increasing amount of information is available related to the pathogenesis, clinical phenotypes, and management of this syndrome in recent years. This review summarizes the current clinical and genetic status related to 22q11DS. Keywords: DiGeorge syndrome, velocardiofacial syndrome, TBX1

10.2147/tacg.s82105

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Citations (80)

BBS10 frameshift mutation in a Turkish girl with bardet biedl syndrome

Mehmet Ali Söylemez Bilgen Bilge Geçkinli Kenan Delil Esra Ateş Arslan Ayberk Türkyılmaz

Bardet–Biedl Syndrome

Girl

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İdyopatik boy kısalığında shox geni değişiklikleri

Kenan Delil Halil Gürhan Karabulut

Boy kisaligi (BK) guclu genetik komponenti olan, multifaktoriyel gelisimsel birdurumdur. Cocukluk caginda en sik gorulen klinik durumlardan biridir. BK'ya nedenolabilecek bircok gen tanimlanmistir ve bunlarin en onemlilerinden bir tanesi SHOXgenidir. SHOX geni mutasyonunun idyopatik boy kisaligi (IBK), Turner sendromu,Leri-Weill diskondrosteozu ve Langer mezomelik displazisine neden oldugugosterilmistir.Kullanilan tarama yonteminin ve hasta secim kriterlerinin farkliligina gore IBK'daSHOX geni mutasyonlari %2-15 olarak bulunmustur. SHOX geni mutasyonlarininyaklasik %80'ini delesyonlar, geri kalan kismini nokta mutasyonlari olusturur.IBK'da buyume hormonu tedavisine yanit veren alt grup olan SHOX genimutasyonuna sahip olgulari saptamak onemlidir.Bu calisma ile;1. IBK'da BH tedavisine yanit veren alt grup olan SHOX geni mutasyonuna sahipolgulari saptamak,2. Ulkemizdeki IBK olgularinda SHOX geni mutasyonlarinin sikligi ve dagiliminintespitine olanak saglanmak,3. SHOX geni mutasyonu saptama ihtimali yuksek olan hasta alt gruplarinibelirlemek,4. Bu bilgilere dayanilarak mutasyon sikligi ve hasta gruplarina gore genetik testalgoritmasi gelistirmek,5. SHOX geni analizi icin ulke genelinde hizmet verebilecek alt yapi ve deneyimesahip bir merkez olusumunu saglamak hedeflenmistir.Calismamizda, klinik ve laboratuvar olarak IBK tanisi almis, sitogenetik olaraknormal bulunmus, pediatrik yas grubu hastalar incelemeye alinmistir. Delesyonlarintespiti icin mikrosatellit marker analizi ve FISH analizi gerceklestirilmistir. Delesyonsaptanmayan olgularda dizi analizi gerceklestirilmistir.Calismamizda 38 hastada gerceklestirilen delesyon ve sekans analizi sonucunda bir(yaklasik %2.6) hastada heterozigot delesyon saptanmistir. Sekans analizindemutasyon tespit edilmemistir.Calismamizda IBK hastalarinda saptanan SHOX geni mutasyon orani daha oncekicalismalarla uyumlu bulunmustur.IBK olgularinda SHOX geni mutasyonu saptama ihtimali yuksek hastalarinseciminde SHOX geni eksikligine ozgu Madeleng deformitesi yaninda, on kolkisaligi, kulac-boy farki, IAY ve ekstremite-govde oraninin kullanilmasinin faydaliolacagi dusunulmustur.Abstract Short stature (SS) is a multifactorial developmental condition and has a stronggenetic component. SS is one of the most frequent clinical condition in childhood.A lot of genes have been reported to cause short stature and one of the mostimportant of these genes is SHOX gene. Loss of SHOX gene has been shown toresult in idiopathic short stature (ISS), Turner syndrome, Leri-Weilldyschondrosteosis and Langer mesomelic dysplasia.Depending on the methods used in mutation screening, SHOX gene mutations varyfrom %2-15. About %80 of SHOX mutations consist of deletions and the remainingmutations are point mutations. It is important to detect ISS patients with SHOXgene mutations since these patients respond to growth hormone therapy.In this study, it is aimed;1. to determine ISS patients with SHOX mutations who respond well to growthhormone therapy2. to determine the frequency and distributions of SHOX gene mutations in ourcountry,2. to determine sub-group of patients clinically who may have a high probability ofhaving SHOX gene mutations,3. to perform genetic test algorithm according to mutation frequency and patientsub-group,4. to constitute an experienced genetic centre which can serve as a center for SHOXgene mutation analysis country-wide.38 cytogenetically normal patients diagnosed with idiopathic short stature afterclinical and laboratory examination were included in this study . Microsatellitemarker and FISH analysis were performed to detect deletions and then sequenceanalysis was performed in patients with no deletion.In our study group, heterozygous deletion was dedected in one patient (about%2.6).Sequence analysis performed in remaining 37 patients showed no mutation. Theratio of SHOX gene mutations were found to be about %2.6 which is in accordancewith other studies in the literature.In addition to Madelung deformity which is specific for SHOX deficiency, use ofshort forearm, armspan-height difference, % body-mass index and extremity-trunkratio were suggested to be useful in determining sub-group of patients who mayhave a high probability of having SHOX gene mutations.

Hasta

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Vitamin D receptor gene polymorphisms in children with kidney stone disease

The Turkish Journal of Pediatrics (2017)

Berivan Subaşı İbrahim Gökçe Kenan Delil Harika Alpay

Subaşı B, Gökçe İ, Delil K, Alpay H. Vitamin D receptor gene polymorphisms in children with kidney stone disease. Turk J Pediatr 2017; 59: 404-409. Kidney stone disease has a multifactorial etiology involving the interaction of genetic and environmental factors. There is an increased risk of stone formation in the relatives of idiopathic stone patients, which can be explained up to 60% by genetic factors. This study was conducted to explore the association of vitamin D receptor (VDR) gene polymorphisms with the risk of urolithiasis (UL) in Turkish children. We investigated the VDR gene polymorphisms: ApaI, BsmI, TagI, Cdx2, FokI, in 52 children (26 boys, 26 girls) with UL and in 51 healthy children (22 boys, 29 girls) without UL. Apa I, BsmI, TagI, Cdx2, FokI genotypes were analyzed by Apa I, BsmI, TagI, Cdx2, FokI restriction enzyme digestion, respectively. The resulting alleles are designated as ABTCF (ApaI, BsmI, TagI, Cdx2, and FokI restriction site is absent), or abtcf (ApaI, BsmI, TagI, Cdx2, FokI restriction site is present), respectively. Genotype and allele frequencies were calculated, and the association with UL, hypercalciuria and hypocitraturia was investigated. Our data provide no statistically significant evidence for an association between UL and VDR ApaI, BsmI, TagI, Cdx2, and FokI genotype and allele frequencies. Patients with hypocitraturia and hypercalciuria were compared with the control group and no statistically significant difference was detected in terms of VDR gene ApaI, BsmI, TagI, Cdx2, and FokI polymorphisms and allele frequencies. Our data suggest that the VDR ApaI, BsmI, TagI, Cdx2, and FokI polymorphisms do not indicate a significant risk for UL.

FokI

TaqI

10.24953/turkjped.2017.04.006

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Citations (10)

Cinacalcet Treatment in a Child with Concurrent Juvenile Idiopathic Arthritis and Hypocalciuric Hypercalcemia

55th ESPE Meeting (2016)

Bülent Hacıhamdioğlu Kenan Delil Ozan Özkaya

Cinacalcet

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Challenges in the treatment of fibrodysplasia ossificans progressiva

Rheumatology International (2018)

Kardelen Gençer Atalay Ekim Can Öztürk İlker Yağcı Pınar Ata Kenan Delil

Fibrodysplasia Ossificans Progressiva

Myositis ossificans

Spondyloarthropathy

Aggressive Fibromatosis

Rare disease

10.1007/s00296-018-4179-x

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Citations (19)

Two cases of acute myocarditis with multiple intracardiac thrombi: The role of hypercoagulable states

Heart Views (2014)

Murat Sünbül Halil Ataş Fuad Samadov Altuğ Çinçin Kenan Delil

In acute myocarditis, thrombus formation is an important prognostic factor. Early diagnosis and treatment of intracardiac thrombus is critical, especially when there are multiple thrombi. When a patient presents with multiple cardiac thrombi not only cardiac disorders, but other diseases such as malignancies, rheumatologic disorders and thrombophilia must be considered in the differential diagnosis. Although the presence of hypercoagulable states does not generally affect the treatment choice, it may have an impact on continuation and duration of the anticoagulant therapy. In this paper, we present two cases of acute myocarditis with multiple intracardiac thrombi. Additionally, these cases had hypercoagulable states which might have contributed to the thrombus formation.

10.4103/1995-705x.132143

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Citations (7)