Researcher:
Akçay, Ayfer Arduç

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Ayfer Arduç

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Akçay

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Akçay, Ayfer Arduç

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2022 - 20233

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    Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
    (Elsevier B.V., 2023) Aksu Uzunhan, Tuğçe; Ertürk, Biray; Aydın, Kürşad; Ayaz, Akif; Yarar, Murat Hakkı; Gezdirici, Alper; İçağasıoğlu, Dilara Füsun; Gökpınar İli, Ezgi; Uyanık, Bülent; Eser, Metin; Kutbay, Yaşar Bekir; Topçu, Yasemin; Kılıç, Betül; Bektaş, Gonca; Ekici, Barış; Chousein, Amet; Yüksel, Atıl; Altunoğlu, Umut; Akçay, Ayfer Arduç; Avcı, Şahin; Kayserili, Hülya; Faculty Member; Faculty Member; Faculty Member; Faculty Member; School of Medicine; School of Medicine; School of Medicine; School of Medicine; 126174; 162811; N/A; 7945
    Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert syndrome. We aim to describe a group of Joubert syndrome patients clinically and genetically emphasizing organ involvement. Methods: We retrospectively collected clinical information and molecular diagnosis data of 22 patients with Joubert syndrome from multiple facilities. Clinical exome or whole-exome sequencing were performed to identify causal variations in genes. Results: The most common variants were in the CPLANE1, CEP290, and TMEM67 genes, and other causative genes were AHI1, ARMC9, CEP41, CSPP1, HYLS1, KATNIP, KIAA0586, KIF7, RPGRIP1L, including some previously unreported variants in these genes. Multi-systemic organ involvement was observed in nine (40%) patients, with the eye being the most common, including Leber's congenital amaurosis, ptosis, and optic nerve coloboma. Portal hypertension and esophageal varices as liver and polycystic kidney disease and nephronophthisis as kidney involvement was encountered in our patients. The HYLS1 gene, which commonly causes hydrolethalus syndrome 1, was also associated with Joubert syndrome in one of our patients. A mild phenotype with hypophyseal hormone deficiencies without the classical molar tooth sign was observed with compound heterozygous and likely pathogenic variants not reported before in the KATNIP gene. Conclusion: Some rare variants that display prominent genetic heterogeneity with variable severity are first reported in our patients. In our study of 22 Joubert syndrome patients, CPLANE1 is the most affected gene, and Joubert syndrome as a ciliopathy is possible without a classical molar tooth sign, like in the KATNIP gene-affected patients. © 2022 Elsevier B.V.
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    Sorbitol-dehydrogenase (SORD) gene mutation as a curable cause of charcot-marie-tooth 2 (CMT-2) and distal hereditary motor neuronopathy (D-HMN)
    (Wiley, 2022) N/A; N/A; N/A; N/A; N/A; Yunisova, Gulshan; Avcı, Şahin; Akçay, Ayfer Arduç; Kayserili, Hülya; Oflazer, Piraye; Doctor; Faculty Member; Faculty Member; Faculty Member; Faculty Member; N/A; School of Medicine; School of Medicine; School of Medicine; School of Medicine; Koç University Hospital; N/A; N/A; 162811; 7945; N/A
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    Surgical correction of a ventricular septal defect in a child with spinal muscular atrophy type 2 treated with nusinersen sodium: a case report
    (BioMed Central Ltd, 2023) Öztürk, Figen; Akçay, Ayfer Arduç; Biçer, Mehmet; Kozan, Şima; Faculty Member; Faculty Member; Undergraduate Student; School of Medicine; School of Medicine; School of Medicine; 162811; 310599; N/A
    Introduction: Spinal muscular atrophy (SMA) is a severe, inherited neuromuscular disorder characterized by progressive muscle weakness and atrophy. Cardiac pathology co-existence is reported more frequently in the severely affected patient groups. Structural heart anomalies, mainly septal, and outflow tract defects are commonly observed pathologies. Case presentation: We herein report the case of a 23 days-old female patient with the diagnosis of spinal muscular atrophy type 2 complicated with structural heart defects. Successful pulmonary banding, and at the age of 17 months, subsequent surgical atrial and ventricular septal defect closure were performed on our patient who was under treatment of Nusinersen Sodium. Post-operative recovery was uncomplicated. Cardiac assessments were normal, and the patient was neurologically improving in her recent follow-up. Conclusion: In the literature, there are no reported cases of successful surgical repair of heart defects in spinal muscular atrophy patients. These patients can be perceived as risky surgical candidates with suboptimal postoperative recovery given the unfavorable disease prognosis of SMA in untreated patients. We report our promising experience with a SMA type 2 patient undergoing a disease-modifying medical treatment. The SMA patients under treatment may be potential candidates for successful surgical cardiac correction given their overall improved prognosis. © 2023, The Author(s).