Browsing by Author "Ceylaner, Serdar"

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Compound heterozygous variants in fam111a cause autosomal recessive kenny-caffey syndrome type 2
(Galenos Publ House, 2023-03-01) Ceylaner, Serdar; Eren, Erdal; EREN, ERDAL; Ünlü, Havva Tezcan; Tarım, Ömer; TARIM, ÖMER FARUK; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Pediatri Anabilim Dalı.; Bursa Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı.; 0000-0002-1684-1053; 0000-0002-0910-4258; 0000-0003-2786-1911; 0000-0002-5322-5508; GYU-0252-2022
Kenny-Caffey syndrome (KCS) is a rare autosomal recessive (AR)/dominant disease characterized by hypoparathyroidism, skeletal dysplasia, dwarfism, and dysmorphism. FAM111A or TBCE gene mutations are responsible for this syndrome. Osteocraniostenosis (OCS) is a lethal syndrome with similar features to KCS, and it can be a severe form of KCS type 2 which results from the FAM111A gene mutation. The FAM111A mutation is generally characterized by the autosomal dominant transition. We present a male case having compound heterozygous variants (c.976T>A and c.1714_1716del) in the FAM111A gene with an AR inheritance pattern. Hypocalcemia developed on the second day of life. The patient and his older sister had a dysmorphic face, skeletal dysplasia, and they were diagnosed with hypoparathyroidism. Both siblings died due to septicemia. He is the first reported patient with the FAM111A mutation in Turkey. The phenotype of the patient is compatible with OCS, and the detected variants may explain the disease genetically.
Multiple pterygium sendromu: Olgu sunumu, fetal akinezi sekansı ve pterygium sendromu ile karşılaştırılması
(Uludağ Üniversitesi, 2009) Kışlal, Fatih Mehmet; Pınar, Rukiye; Ceylaner, Serdar; Dilmen, Uğur; Cörüt, Nazlı
Multiple pterygium sendromu (MPS) anormal yüz görünümü ve antekübital, servikal, popliteal, interdigital alanlarda ve boyunda cilt katlantıları, eklemlerde şeksiyon kontraktürü ile karakterize olup, pterygum colli sendromu, Escobar sendromu veya pterygium sendromu olarak da bilinir. Bu yazıda bir annenin 19 yıl süren infertil periyodundan sonra invitro fertilizasyon ile 28 haftalık ikiz eşi olarak MPS ile doğan bir olgu sunulmuştur. Dünyada yılda yaklaşık 3 milyon doğum yardımcı üreme teknikleri ile meydana gelmektedir. Yardımcı üreme teknikleri ile gerçekleşen gebeliklerde perinatal morbidite ve mortalite artmıştır. Multiple pterygium sendromunun karakteristik özelliklerini içeren ve bildiğimize göre invitro fertilizasyon sonucu görülen ilk olgu olması nedeniyle okuyucuların dikkatine sunduk.
Mutations in SLC29a3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease
(Public Library Science, 2010-02) Morgan, Neil V.; Morris, Mark R.; Gleeson, Diane; Straatman-Iwanowska, Anna A.; Davies, Nicholas James; Keenan, Stephen J.; Pasha, Shanaz S.; Rahman, Fatimah; Gentle, Dean C.; Vreeswijk, Maaike P.G.; Devilee, Peter; Knowles, Margaret A.; Ceylaner, Serdar; Trembath, Richard C.; Dalence, Carlos; Kısmet, Erol; Köseoğlu, Vedat; Rossbach, Hans Christoph; Gissen, Paul; Tannahill, David; Mäher, Eamonn Richard; Cangül, Hakan; Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Genetik Anabilim Dalı.; 8911611600
The histiocytoses are a heterogeneous group of disorders characterised by an excessive number of histiocytes. In most cases the pathophysiology is unclear and treatment is nonspecific. Faisalabad histiocytosis (FHC) (MIM 602782) has been classed as an autosomal recessively inherited form of histiocytosis with similarities to Rosai-Dorfman disease (RDD) (also known as sinus histiocytosis with massive lymphadenopathy (SHML)). To elucidate the molecular basis of FHC, we performed autozygosity mapping studies in a large consanguineous family and identified a novel locus at chromosome 10q22.1. Mutation analysis of candidate genes within the target interval identified biallelic germline mutations in SLC29A3 in the FHC kindred and in two families reported to have familial RDD. Analysis of SLC29A3 expression during mouse embryogenesis revealed widespread expression by e14.5 with prominent expression in the central nervous system, eye, inner ear, and epithelial tissues including the gastrointestinal tract. SLC29A3 encodes an intracellular equilibrative nucleoside transporter (hENT3) with affinity for adenosine. Recently germline mutations in SLC29A3 were also described in two rare autosomal recessive disorders with overlapping phenotypes: (a) H syndrome (MIM 612391) that is characterised by cutaneous hyperpigmentation and hypertrichosis, hepatomegaly, heart anomalies, hearing loss, and hypogonadism; and (b) PHID (pigmented hypertrichosis with insulin-dependent diabetes mellitus) syndrome. Our findings suggest that a variety of clinical diagnoses (H and PHID syndromes, FHC, and familial RDD) can be included in a new diagnostic category of SLC29A3 spectrum disorder.