Papers by Nursel Elcioglu
American journal of medical genetics, Apr 13, 1998
ABSTRACT
Journal of Medical Genetics, Mar 1, 2013
Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inhe... more Background Jeune asphyxiating thoracic dystrophy (JATD) is a rare, often lethal, recessively inherited chondrodysplasia characterised by shortened ribs and long bones, sometimes accompanied by polydactyly, and renal, liver and retinal disease. Mutations in intraflagellar transport (IFT) genes cause JATD, including the IFT dynein-2 motor subunit gene DYNC2H1. Genetic heterogeneity and the large DYNC2H1 gene size have hindered JATD genetic diagnosis. Aims and methods To determine the contribution to JATD we screened DYNC2H1 in 71 JATD patients JATD patients combining SNP mapping, Sanger sequencing and exome sequencing. Results and conclusions We detected 34 DYNC2H1 mutations in 29/71 (41%) patients from 19/57 families (33%), showing it as a major cause of JATD especially in Northern European patients. This included 13 early protein termination mutations (nonsense/frameshift, deletion, splice site) but no patients carried these in combination, suggesting the human phenotype is at least partly hypomorphic. In addition, 21 missense mutations were distributed across DYNC2H1 and these showed some clustering to functional domains, especially the ATP motor domain. DYNC2H1 patients largely lacked significant extraskeletal involvement, demonstrating an important genotype-phenotype correlation in JATD. Significant variability exists in the course and severity of the thoracic phenotype, both between affected siblings with identical DYNC2H1 alleles and among individuals with different alleles, which suggests the DYNC2H1 phenotype might be subject to modifier alleles, non-genetic or epigenetic factors. Assessment of fibroblasts from patients showed accumulation of anterograde IFT proteins in the ciliary tips, confirming defects similar to patients with other retrograde IFT machinery mutations, which may be of undervalued potential for diagnostic purposes.
Asthma Allergy Immunology, Sep 27, 2016
Turkiye Klinikleri Journal of Pediatrics, 1993
Norman ve Asadi, 1979'da böbrek fonksiyon bo zukluğu gösteren yenidoğanlarda yaptıkları ince... more Norman ve Asadi, 1979'da böbrek fonksiyon bo zukluğu gösteren yenidoğanlarda yaptıkları incele melerde, çoğunun etyolojisinde perinatal hipoksinin bu lunduğunu ve bu durumun ilk 48 saat içinde geliştiğini bildirmişlerdir (7). Son yıllarda yapılmış araştırmalarda da perinatal hipoksiye maruz kalmış yenidoğanlarda iskemik böbrek hasarlarının %40'lara varan oranlarda, hipoksi ve asidozun şiddet ve süresine bağlı olarak ge liştiği açıklanmıştır (8,9).
Human Molecular Genetics, Nov 7, 2011
The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate... more The atonal homolog 7 (ATOH7) gene encodes a transcription factor involved in determining the fate of retinal progenitor cells and is particularly required for optic nerve and ganglion cell development. Using a combination of autozygosity mapping and next generation sequencing, we have identified homozygous mutations in this gene, p.E49V and p.P18RfsX69, in two consanguineous families diagnosed with multiple ocular developmental defects, including severe vitreoretinal dysplasia, optic nerve hypoplasia, persistent fetal vasculature, microphthalmia, congenital cataracts, microcornea, corneal opacity and nystagmus. Most of these clinical features overlap with defects in the Norrin/b-catenin signalling pathway that is characterized by dysgenesis of the retinal and hyaloid vasculature. Our findings document Mendelian mutations within ATOH7 and imply a role for this molecule in the development of structures at the front as well as the back of the eye. This work also provides further insights into the function of ATOH7, especially its importance in retinal vascular development and hyaloid regression.
Turkiye Klinikleri Pediatric Sciences - Special Topics, 2016
Clinical and Experimental Obstetrics & Gynecology, 2006
PubMed, 1997
Monozygotic twins are rarely completely identical despite their origin from a single zygote. The ... more Monozygotic twins are rarely completely identical despite their origin from a single zygote. The twinning process itself, or the very early intrauterine environment must provide the clues to explain this developmental dilemma. We present here discordant monozygotic twin girls, one of whom was diagnosed having IVIC (Oculo-oto-radial) syndrome on the basis of hand abnormalities and hearing loss but her twin sister has only strabismus. The family has at least 7 apparently and 2 possible affected members (gene carriers) over four generations, the majority being only midly affected. The 2 girls, whose monozygosity has been proved using independent DNA loci, show marked variability in expression, showing that for this gene modification of expression must be epigenetic or environmental rather than genetic.
PubMed, Feb 1, 1999
Background: Persistent müllerian duct syndrome is a rare form of male pseudohermaphroditism in wh... more Background: Persistent müllerian duct syndrome is a rare form of male pseudohermaphroditism in which well-developed müllerian structures are present in an otherwise normal male with XY chromosomes. The syndrome was first described by Nilson in 1939, and almost 100 cases have been reported. Case: A 22-year-old man presented with mild, right-sided inguinal pain and heaviness in his scrotum. He underwent right-sided inguinal exploration because of having a palpable right-sided, irreducible inguinal hernia. Two testicles with surface nodularity and a bicornuate uterus with rudimentary fallopian tubes were detected and removed as one specimen, and the hernia was repaired. Conclusion: Management of this syndrome is difficult because of the limited number of cases. If the diagnosis can be made before surgery, karyotyping can be useful to decide on orchiopexy or orchioectomy. In suspected cases, laparoscopy and ultrasonographic evaluation of all crytorchidic cases may be helpful for diagnosing this condition before surgery. All patients with this syndrome have a male phenotype; therefore, it is essential to preserve secondary sex characteristics. Androgen replacement therapy should be given to patients who have undergone gonadectomy and to those with low levels of testosterone.
American journal of medical genetics, Apr 13, 1998
ABSTRACT
Turkiye Klinikleri Journal of Pediatrics, 1993
Akut böbrek yetersizliği (ABY) glomerüler filtrasyon hızında ani bir düşme ile karakterize olup, ... more Akut böbrek yetersizliği (ABY) glomerüler filtrasyon hızında ani bir düşme ile karakterize olup, bu durum suelektrolitlerde ve asit-baz hemostazında bozukluklara yol açar ve nitrojen ürünleri birikirler. Lezyon bölgesine göre prerenal, renal ve postrenal sebepler tanımlanmaktadır. Bu üç grubun tanısal değerlendirme ve tedavileri oldukça farklıdır. Yenidoğanda böbrek yetersizliği ciddi bir sorun dur ve bazen perinatal olarak ortaya çıkabilir. Bebeklerde ABY tedavisi sıvı düzenlenmesi, ilaç monitorizasyonu ve dolaşım desteğinden oluşmaktadır. ABY, özellikle ileri de recede hasta yenidoğanlarda değişik hastalıklara eşlik edebilir.
Dermatology Online Journal, May 18, 2016
Case Presentation Successful treatment of pityriasis lichenoides chronica with narrow-band ultrav... more Case Presentation Successful treatment of pityriasis lichenoides chronica with narrow-band ultraviolet B therapy in a patient with Keratitis-Ichthyosis-Deafness syndrome: a case report
Pathologie Biologie, Feb 1, 2014
Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive inherited metabolic disease re... more Mucopolysaccharidosis type IVA (MPS IVA) is an autosomal recessive inherited metabolic disease resulting from deficiency of N-acetylgalactosamine-6-sulfatase (GALNS). This lysosomal storage disorder leads to a wide range of clinical variability ranging from severe, through intermediate to mild forms. The classical phenotype of Morquio A disease is characterized by severe bone dysplasia without intellectual impairment. Two severe MPS IVA patients from two unrelated Turkish families have been investigated. The 14 exons and intron-exon junctions of the GALNS gene were sequenced after amplification from genomic DNA. Direct sequencing revealed two homozygous mutations previously described: p.L390X in exon 11 and p.W141R in exon 4. The p L390X mutation was associated with four novel polymorphisms in intron 2, intron 5 and intron 6 and one polymorphism previously described in exon 7. We have analysed the haplotypes associated with the two identified mutations. These molecular findings will permit accurate carrier detection, prenatal diagnosis and counseling for Morquio A syndrome in Turkey.
Turkiye Klinikleri Pediatric Sciences - Special Topics, 2005
Journal of Pediatric Endocrinology and Metabolism, Jun 30, 2023
Objectives TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical feature... more Objectives TANGO2 deficiency is a rare inborn error of metabolism, with distinct clinical features. The clinical presentations of TANGO2 deficiency are developmental delay, speech difficulties, intellectual disability, non-life-threatening paroxysmal neurologic episodes (TANGO2 spells), acute metabolic crises, cardiac crises, seizures and hypothyroidism. Patients may die in acute metabolic crises. Here we report our experience in the management of an acute metabolic crisis in TANGO2 deficiency. Case presentation A 9-year-old patient diagnosed with TANGO2 deficiency was admitted with fever, fatigue, unable to walk. In follow up, encephalopathy, rhabdomyolysis and arrhythmia were detected. Vitamin B-complex was started. Our patient’s mental status and rhabdomyolysis improved dramatically, and cardiac crises ended without Torsades de pointes, ventricular tachycardia and/or fibrillation or myocardial dysfunction. Conclusions With this report, we aimed to show the effectiveness of vitamin B-complex in the management of acute metabolic crises.
Human Mutation, Jul 7, 2016
Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face,... more Kabuki syndrome (KS) is a rare but recognizable condition that consists of a characteristic face, short stature, various organ malformations and a variable degree of intellectual disability. Mutations in KMT2D have been identified as the main cause for KS, while mutations in KDM6A are a much less frequent cause. Here, we report a mutation screening in a case series of 347 unpublished patients, in which we identified 12 novel KDM6A mutations (KS type 2) and 208 mutations in KMT2D (KS type 1), 132 of them novel. Two of the KDM6A mutations were maternally inherited and 9 were shown to be de novo. We give an up-to-date overview of all published mutations for the two Kabuki syndrome genes and point out possible mutation hot spots and strategies for molecular genetic testing. We also report the clinical details for 11 patients with KS type 2, summarize the published clinical information, specifically with a focus on the less well defined X-linked KS type 2, and comment on phenotype-genotype correlations as well as sex-specific phenotypic differences. Finally, we also discuss a possible role of KDM6A in Kabuki-like Turner syndrome and report a mutation screening of KDM6C (UTY) in male KS patients.
Geburtshilfe Und Frauenheilkunde, Mar 1, 1995
Journal of Human Genetics, 2015
Human Genetics and Genomics Advances
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Papers by Nursel Elcioglu