Person: ALAVANDA, CEREN
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ALAVANDA
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CEREN
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Publication Metadata only Enostosis in a patient with KBG syndrome caused by a novel missense ANKRD11 variant(2022-07-01) GEÇKİNLİ, BİLGEN BİLGE; ALAVANDA, CEREN; ARMAN, AHMET; GEÇKİNLİ B. B., ALAVANDA C., Ates E. A., Yildirim O., ARMAN A.KBG syndrome (KBGS-OMIM:#148050) is a rare autosomal dominant disease characterized by short stature, intellectual disability, characteristic facies, skeletal anomalies and macrodontia that most commonly affect the permanent upper central incisors. In 2011, Sirmaci et al. (2011) identified heterozygous loss-of-function variants in the ANKRD11 gene on chromosome 16q24.3. So far, more than 150 patients have been reported in the literature. ANKRD11 gene encodes ankyrin repeat domain-containing protein 11 that regulates transcriptional activation (Zhang et al., 2004). Apart from single-nucleotide variations in the ANKRD11 gene, copy number variations on chromosome 16q24.3 can also cause KBG syndrome-like phenotype. In this study, we present a patient with de-novo novel missense variant in ANKRD11 gene. We have also identified skeletal bone enostosis as an additional finding, which is not previously reported.Publication Metadata only Clinical spectrum of cubulin mutations(2022-11-01) ALPAY, HARİKA; DEMİRCİ BODUR, ECE; ALAVANDA, CEREN; YILDIZ, NURDAN; ATA, PINAR; GÖKCE, İBRAHİM; Cicek N., ALPAY H., Guven S., Turkkan O. N. , Polat S., DEMİRCİ BODUR E., ALAVANDA C., YILDIZ N., ATA P., GÖKCE İ.Publication Metadata only Molecular analysis of MKRN3 gene in Turkish girls with sporadic and familial idiopathic central(2023-03-01) KIRKGÖZ, TARIK; KAYGUSUZ, SARE BETÜL; ALAVANDA, CEREN; GÜRPINAR TOSUN, BUŞRA; ELTAN, MEHMET; SEVEN MENEVŞE, TUBA; GÜRAN, TÜLAY; ARMAN, AHMET; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; KIRKGÖZ T., KAYGUSUZ S. B., ALAVANDA C., Helvacioglu D., Abali Z. Y., GÜRPINAR TOSUN B., ELTAN M., SEVEN MENEVŞE T., GÜRAN T., ARMAN A., et al.Objectives: Central precocious puberty (CPP) develops as a result of early stimulation of the hypothalamic-pituitary-gonadal (HPG) axis. The loss-of-function mutations in the Makorin-ring-finger3 (MKRN3) gene appear to be the most common molecular cause of familial CPP. We aimed to identify MKRN3 gene mutations in our CPP cohort and to investigate the frequency of MKRN3 mutations.Methods: 102 patients with CPP included. 53 of them had family history of CPP in the first and/or second-degree relatives. MKRN3 gene was analyzed by next-generation sequencing.Results: Possible pathogenic variants were found in 2/53 patients with family history of CPP (3.8%) and 1/49 patient without family history (2%). A novel heterozygous c.1A > G (p.Met1Val) mutation, a novel heterozygous c.683_684delCA (p.Ser228*) and a previously reported c.482dupC (Ala162Glyfs*) frameshift variations were detected. The two novel variants are predicted to be pathogenic in silico analyses.Conclusions: In our cohort, possible pathogenic variants in MKRN3 gene were detected in 2.9% of the total cohort, 3.8% of the familial and 2% of the nonfamilial cases, slightly lower than that reported in the literature. Two novel variants detected contribute to the molecular repertoire of MKRN3 defects in CPP. Classical pattern of paternal inheritance has been demonstrated in all three cases. However, the father of the patient 3 did not have history of CPP suggesting that the father inherited this variant from his mother and had phenotype skipping. Therefore, we emphasize that the absence of history of CPP in the father does not exclude the possibility of a MKRN3 mutation.Publication Metadata only Etiological analysis of hypophosphatemia: A single-center experience(2022-09-01) ELTAN, MEHMET; ALAVANDA, CEREN; ATA, PINAR; GÜRAN, TÜLAY; DEMİRCİOĞLU, SERAP; BEREKET, ABDULLAH; Eltan M., Alavanda C., Abali Z. Y. , Bayramoglu E., Kaygusuz S. B. , Helvacioglu D., Tosun B. G. , Menevse T. S. , Ata P., Guran T., et al.Publication Metadata only A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)(2023-01-01) ALAVANDA, CEREN; Demir S., ALAVANDA C., Yesil G., Aslanger A. D., Ates E. A.Introduction: Myhre syndrome (MS; OMIM #139210) is a rare connective tissue disorder presenting with cardiovascular, respiratory, gastrointestinal, and skeletal system findings. Fewer than 100 patients were reported until recently, and all molecularly confirmed cases had de novo heterozygous gain-of-function mutations in the SMAD4 gene. Dysregulation of the TGF-beta signaling pathway leads to axial and appendicular skeleton, connective tissue, cardiovascular system, and central nervous system abnormalities. Case Presentation: Two siblings, 12 and 9 years old, were referred to us because of intellectual disability, neurodevelopmental delay, and dysmorphic facial features. Physical examination revealed hypertelorism, strabismus, small mouth, prognathism, short neck, stiff skin, and brachydactyly. Discussion: With a clinical diagnosis of MS, the SMAD4 gene was analyzed via Sanger sequencing, and a heterozygous c.1486C>T (p.Arg496Cys) pathogenic variation was detected in both of the siblings. The segregation analysis revealed that the mutation was inherited from the father who displayed a milder phenotype. Among the 90 patients in the literature, one family was reported in which two siblings carried the same variation (p.Arg496Cys), inherited from the severely affected mother. We are reporting the second family which has three affected family members, a father and two children. We report this study to remind the clinicians to be aware of the parental transmission of SMAD4 variations and also evaluate the parents of the Myhre cases.Publication Metadata only Genetıc tests ın non-neurogenıc neurogenıc bladder: two sıblıngs wıth ochoa syndrome(2022-11-01) GÖKCE, İBRAHİM; ALAVANDA, CEREN; ŞEKERCİ, ÇAĞRI AKIN; DEMİRCİ BODUR, ECE; YILDIZ, NURDAN; YÜCEL, SELÇUK; ATA, PINAR; ALPAY, HARİKA; Pul S., GÖKCE İ., ALAVANDA C., ŞEKERCİ Ç. A. , DEMİRCİ BODUR E., Turkkan O. N. , Guven S., Cicek N., YILDIZ N., YÜCEL S., et al.