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Dive into the research topics where Aynur Küçükçongar is active.

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Featured researches published by Aynur Küçükçongar.


Human Mutation | 2012

Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants

Marian A. Kroos; Marianne Hoogeveen-Westerveld; Helen Michelakakis; Robert Pomponio; Ans T. van der Ploeg; Dicky Halley; Arnold J. J. Reuser; Persephone Augoustides-Savvopoulou; Margreet G. E. M. Ausems; Jose E. Barcena Llona; Juan Bautista Lorite; Nadine A. M. E. van der Beek; Luisa Bonafé; Mario Cuk; Marc D'Hooghe; Baziel G.M. van Engelen; A. Farouk; Ksenija Fumić; E. Garcia-Delgado; Andreas Herzog; J. Hurst; Simon A. Jones; M. H. Kariminejad; Aynur Küçükçongar; Willy Lissens; Allan M. Lund; Danielle Majoor-Krakauer; Shingo Kumamoto; E. Maravi; Suely Kazue Nagahashi Marie

Pompe disease is an autosomal recessive lysosomal glycogen storage disorder, characterized by progressive muscle weakness. Deficiency of acid α‐glucosidase (EC; 3.2.1.20/3) can be caused by numerous pathogenic variants in the GAA gene. The Pompe Disease Mutation Database at http://www.pompecenter.nl aims to list all variants and their effect. This update reports on 94 variants. We examined 35 novel and 34 known mutations by site‐directed mutagenesis and transient expression in COS‐7 cells or HEK293T cells. Each of these mutations was given a severity rating using a previously published system, based on the level of acid α‐glucosidase activity in medium and transfected cells and on the quantity and quality of the different molecular mass species in the posttranslational modification and transport of acid α‐glucosidase. This approach enabled to classify 55 missense mutations as pathogenic and 13 as likely nonpathogenic. Based on their nature and the use of in silico analysis (Alamut® software), 12 of the additional 25 novel mutations were predicted to be pathogenic including 4 splicing mutations, 6 mutations leading to frameshift, and 2 point mutations causing stop codons. Seven of the additional mutations were considered nonpathogenic (4 silent and 3 occurring in intron regions), and 6 are still under investigation. Hum Mutat 33:1161–1165, 2012.


Renal Failure | 2014

BCS1L gene mutation causing GRACILE syndrome: case report

Çiğdem Seher Kasapkara; Leyla Tümer; Fatih Süheyl Ezgü; Aynur Küçükçongar; Alev Hasanoglu

Abstract GRACILE syndrome is a rare autosomal recessive disease characterized by fetal growth retardation, Fanconi type aminoaciduria, cholestasis, iron overload, profound lactic acidosis, and early death. It is caused by homozygosity for a missense mutation in the BCS1L gene. The BCS1L gene encodes a chaperone responsible for assembly of respiratory chain complex III. Here we report that a homozygous mutation c.296C > T (p.P99L), in the first exon of BCS1L gene found in an affected 2-month-old boy of asymptomatic consanguineous parents results in GRACILE syndrome. This genotype is associated with a severe clinical presentation. So far no available treatments have changed the fatal course of the disease, and the metabolic disturbance responsible is still not clearly identified. Therefore, providing prenatal diagnosis in families with previous affected infants is of major importance. Mitochondrial disorders are an extremely heterogeneous group of diseases sharing, in common, the fact that they all ultimately impair the function of the mitochondrial respiratory chain. A clinical picture with fetal growth restriction, postnatal lactacidosis, aminoaciduria, hypoglycemia, coagulopathy, elevated liver enzymes, and cholestasis should direct investigations on mitochondrial disorder.


Metabolic Brain Disease | 2014

Diagnosis of glycine encephalopathy in a pediatric patient by detection of a GLDC mutation during initial next generation DNA sequencing.

Fatih Süheyl Ezgü; Bahattin Çiftci; Burcu Topçu; Gülcan Adıyaman; Hatice Gökmenoğlu; Aynur Küçükçongar; Çiğdem Seher Kasapkara; Gursel Biberoglu; Leyla Tümer; Alev Hasanoglu

Early diagnosis for metabolic encephalopathy caused by inborn errors of metabolism is very important for the initiation of early treatment and also for prevention of sequela. Metabolic encephalopathy in the form of seizures can result from many inborn errors of metabolism and considering the large number of disorders causing metabolic encephalopathy, enzyme assays or conventional molecular tests are expensive and take considerably long period of time which results in delayed treatment. In our center we have used next generation DNA sequencing technology as an initial diagnostic test to look for about 700 disorders at the same time for the etiologic diagnosis of a 4-month-old female infant suffering from intractable seizures. The patient was found to have glycine encephalopathy resulting from a previously defined mutation in the GLDC gene. The diagnostic result was obtained much sooner than other conventional investigations. Up to our knowledge, this would be the first case with glycine encephalopathy in the literature who was approached by this novel panel method initially. Although currently, classical evaluation methods such as physical examination, biochemical and conventional molecular investigations are still accepted as the gold standards to clarify the etiology of the metabolic encephalopathy it is obvious that next generation sequence analysis will play a very significant role in the future.


Transfusion and Apheresis Science | 2012

Apheresis-inducible cytokine pattern change in children with homozygous familial hypercholesterolemia.

Aynur Küçükçongar; Idil Yenicesu; Leyla Tümer; Çiğdem Seher Kasapkara; Fatih Süheyl Ezgü; Ozge Tugce Pasaoglu; Canan Demirtas; Bülent Çelik; Günter Dilsiz; Alev Hasanoglu

Familial hypercholesterolemia is a genetic disorder that leads to severe atherosclerosis related cardiovascular complications in young adults. Extracorporeal elimination is a method of LDL-lowering procedures effective in patients with homozygous or severe heterozygous FH utilized in cases. The recruitment of leucocytes into the arterial intima is dependent on a cascade of events mediated through a diverse family of adhesion molecules. Several pro-inflammatory adhesion molecules are cleared by various lipid apheresis methods. This study showed that, LDL-apheresis led to several changes in circulating inflammatory factors which induced antiinflammatory and antiatherogenic changes in the plasma profile in homozygous familial hypercholesterolemic patients.


Sleep and Breathing | 2014

Home sleep study characteristics in patients with mucopolysaccharidosis

Çiğdem Seher Kasapkara; Leyla Tümer; Ayşe Tana Aslan; Alev Hasanoglu; Fatih Süheyl Ezgü; Aynur Küçükçongar; Zeynep Tunca; Oguz Kokturk


Genetic Counseling | 2015

A case with rare type of congenital disorder of glycosylation: PGM1-CDG.

Aynur Küçükçongar; Leyla Tümer; F Süheyl Ezgü; Ç Seher Kasapkara; Jaak Jaeken; Gert Matthijs; Daisy Rymen; Buket Dalgic; Aysun Bideci; Alev Hasanoglu


Lizozomal Depo Hastalıkları Dergisi | 2011

An Interesting Case of Fabry Disease Presented with Unexplained Abdomen Pain

Aynur Küçükçongar; Ilyas Okur; Fatih Süheyl Ezgü; Çiğdem Seher Kasapkara; Leyla Tümer; Buket Dalgic; Alev Hasanoğlu


Clinical Therapeutics | 2012

P13—A Case of Fabry Disease With Unexplained Abdominal Pain

Aynur Küçükçongar; Fatih Süheyl Ezgü; Leyla Tümer; Buket Dalgic; Alev Hasanoglu


Lizozomal Depo Hastalıkları Dergisi | 2011

Mukopolisakkaridoz Tip VI Tanılı Olgularda Enzim Replasman Tedavi Sonuçlarının Değerlendirilmesi: Gazi Üniversitesi Deneyimi

Alev Hasanoğlu; Fatih Süheyl Ezgü; Leyla Tümer; Çiğdem Seher Kasapkara; Ilyas Okur; Aynur Küçükçongar


Lizozomal Depo Hastalıkları Dergisi | 2010

Gazi Üniversitesi Tıp Fakültesi Çocuk Beslenme ve Metabolizma Bilim Dalı: 5 Yıllık Deneyim

Alev Hasanoğlu; Leyla Tümer; Fatih Süheyl Ezgü; Gürsel Biberoğlu; Ilyas Okur; Fatma Tuba Eminoğlu; Çiğdem Seher Kasapkara; Aynur Küçükçongar; Didem Yalçinkaya; Özlem Gülez

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