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Article ; Online: Hb Andrew-Minneapolis Variant in a Turkish Family

Sümter, Hamza / Mızrak, Soycan / Ceylaner, Serdar / Canatan, Duran

Turkish journal of haematology : official journal of Turkish Society of Haematology

2023 Volume 40, Issue 3, Page(s) 234–235

MeSH term(s)	Humans ; Hemoglobins, Abnormal/genetics ; Hemoglobins, Abnormal/analysis ; Chromatography, High Pressure Liquid
Chemical Substances	hemoglobin Andrew-Minneapolis (53986-72-4) ; Hemoglobins, Abnormal
Language	English
Publishing date	2023-07-31
Publishing country	Turkey
Document type	Journal Article
ZDB-ID	2185903-6
ISSN	1308-5263 ; 1300-7777
ISSN (online)	1308-5263
ISSN	1300-7777
DOI	10.4274/tjh.galenos.2023.2023-0239
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Article ; Online: Prenatal diagnosis of pulmonary arteriovenous malformations with a postnatal diagnosis of Osler-Weber-Rendu syndrome.

Daglar, Halil Korkut / Kaymak, Didem / Ceylaner, Serdar / Uysal, Nihal Şahin / Sanhal, Cem Yaşar

Journal of clinical ultrasound : JCU

2024

Abstract: Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases ... ...

Abstract	Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.
Language	English
Publishing date	2024-04-02
Publishing country	United States
Document type	Case Reports
ZDB-ID	189393-2
ISSN	1097-0096 ; 0091-2751
ISSN (online)	1097-0096
ISSN	0091-2751
DOI	10.1002/jcu.23681
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Zs.A 1186: Show issues

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Article ; Online: Clinical and laboratory findings and etiologies of genetic homocystinemia: a single-center experience.

Besen, Seyda / Ozkale, Yasemin / Ceylaner, Serdar / Noyan, Aytul / Erol, Ilknur

Acta neurologica Belgica

2023 Volume 124, Issue 1, Page(s) 213–222

Abstract: Background: Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing amino acid biosynthesized from methionine by the removal of its terminal methyl group. Hyperhomocysteinemia (HHcy) has been linked to many systemic disorders, including stroke, ...

Abstract	Background: Homocysteine (Hcy) is an endogenous nonprotein sulfur-containing amino acid biosynthesized from methionine by the removal of its terminal methyl group. Hyperhomocysteinemia (HHcy) has been linked to many systemic disorders, including stroke, proteinuria, epilepsy, psychosis, diabetes, lung disease, and liver disease. The clinical effects of high serum Hcy level, also known as hyperhomocysteinemia, have been explained by different mechanisms. However, little has been reported on the clinical and laboratory findings and etiologies of genetic HHcy in children. This study aimed to examine the relationships between clinical features, laboratory findings, and genetic defects of HHcy. Methods: We retrospectively evaluated 20 consecutive children and adolescents with inherited HHcy at the pediatric neurology division of Baskent University, Adana Hospital (Adana, Turkey) between December 2011 and December 2022. Results: Our main finding is that the most common cause of genetic HHcy is MTHFR mutation. The other main finding is that the Hcy level was higher in patients with CBS deficiency and intracellular cbl defects than in MTHFR mutations. We also found that clinical presentations of genetic HHcy vary widely, and the most common clinical finding is seizures. Here, we report the first and only case of a cbl defect with nonepileptic myoclonus. We also observed that mild and intermediate HHcy associated with the MTHFR mutation may be related to migraine, vertigo, tension-type headache, and idiopathic intracranial hypertension. Although some of the patients were followed up in tertiary care centers for a long time, they were not diagnosed with HHcy. Therefore, we suggest evaluating Hcy levels in children with unexplained neurological symptoms. Conclusions: Our findings suggest that genetic HHcy might be associated with different clinical manifestations and etiologies. Therefore, we suggest evaluating Hcy levels in children with unexplained neurologic symptoms.
MeSH term(s)	Child ; Humans ; Adolescent ; Hyperhomocysteinemia/genetics ; Hyperhomocysteinemia/metabolism ; Retrospective Studies ; Stroke ; Amino Acids
Chemical Substances	Amino Acids
Language	English
Publishing date	2023-09-20
Publishing country	Italy
Document type	Journal Article
ZDB-ID	127315-2
ISSN	2240-2993 ; 0300-9009
ISSN (online)	2240-2993
ISSN	0300-9009
DOI	10.1007/s13760-023-02356-1
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Article ; Online: Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report.

Polat, Recep / Ustyol, Ala / Altunbaş, Rabia / Ceylaner, Serdar

Endocrine, metabolic & immune disorders drug targets

2022 Volume 23, Issue 5, Page(s) 727–731

Abstract: Background: H syndrome is a rare genodermatosis deriving from a mutation in the SLC29A3 gene and affecting numerous systems, particularly the skin. The syndrome exhibits different clinical characteristics involving several systems, most beginning with ... ...

Abstract	Background: H syndrome is a rare genodermatosis deriving from a mutation in the SLC29A3 gene and affecting numerous systems, particularly the skin. The syndrome exhibits different clinical characteristics involving several systems, most beginning with the letter "H." The most common clinical findings are cutaneous hyperpigmentation, flexion contracture in the fingers, hearing loss, short stature, insulin-dependent diabetes mellitus, heart anomalies, hepatosplenomegaly, and hypogonadism. Fewer than 150 cases have been reported so far and vast majority of them consisted with patients with Arab ethnicity. Case presentation: We describe a patient presenting with short stature, developing diabetes mellitus at follow-ups, with homozygous deletion determined in exon 3 of the SLC29A3 gene, and diagnosed with H syndrome, reported due to the presence and rarity of renal involvement (hematuria and proteinuria). Conclusion: In conclusion, despite its rarity, endocrinologists, rheumatologists/nephrologists, and dermatologists need to be aware of H syndrome as a pleiotropic syndrome. H syndrome should be considered in the differential diagnosis of patients with cutaneous hyperpigmentation (particularly in the bilateral thigh and calf region) together with proteinuria/hematuria. In addition, periodic urine analysis should be performed in patients with H syndrome.
MeSH term(s)	Humans ; Homozygote ; Hematuria/genetics ; Sequence Deletion ; Mutation ; Diabetes Mellitus, Type 1/complications ; Diabetes Mellitus, Type 1/diagnosis ; Diabetes Mellitus, Type 1/genetics ; Hyperpigmentation/etiology ; Hyperpigmentation/genetics ; Contracture/diagnosis ; Contracture/genetics ; Nucleoside Transport Proteins/genetics
Chemical Substances	SLC29A3 protein, human ; Nucleoside Transport Proteins
Language	English
Publishing date	2022-11-10
Publishing country	United Arab Emirates
Document type	Case Reports
ZDB-ID	2228325-0
ISSN	2212-3873 ; 1871-5303
ISSN (online)	2212-3873
ISSN	1871-5303
DOI	10.2174/1871530323666221111151455
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Article ; Online: Genetic Management Algorithm in High-Risk Fabry Disease Cases; Especially in Female Indexes with Mutations.

Sezer, Ozlem / Ceylaner, Serdar

Endocrine, metabolic & immune disorders drug targets

2020 Volume 21, Issue 2, Page(s) 324–337

Abstract: Background: Fabry Disease (FD, OMIM#301500) is a progressive, life-threatening, multisystemic, rare lysosomal storage disease. Today, approximately 1000 mutations are recorded in the Human Gene Mutation Database (www.hgmd.org) for GLA. Among the ... ...

Abstract	Background: Fabry Disease (FD, OMIM#301500) is a progressive, life-threatening, multisystemic, rare lysosomal storage disease. Today, approximately 1000 mutations are recorded in the Human Gene Mutation Database (www.hgmd.org) for GLA. Among the identified mutations, genetic variants of unknown significance (GVUS) and novel mutations cause problems in terms of diagnosis and treatment approach. Methods: In our study, 510 high-risk patients were enrolled. 229 out of 510 were Male (45%) (Mean age was 40.8 ±15.0) and 281 of were Female (55%) (Mean age was 39, 7±15.5). The definite diagnosis of the FD was confirmed by GLA gene sequence analysis. GLA mutation was found in 15 cases (3.4%). Family members of the relevant indexes were included in the screening programs according to the X-linked inheritance pattern. And then we conducted family screening on 74 family members of 15 index cases. Of those 74 cases, 39 had mutations (53%). In males, α-GalA activity and in both gender Lyso-Gb3 levels were measured and multisystem evaluation was performed in all cases with the mutation. Results: We found six different familial mutation types; two of them pathogenic; p.D170N (1), p.P205S (13), one of them GVUS; p.Q330R (1), three of them likely benign; p.D313Y (12), p.S126G (25), c.-30G>A (2) mutations were detected. Conclusion: The purpose of this retrospective study is to approach Fabry disease on a genetic basis and to improve its management and to draw attention to the importance of early diagnosis. We also aimed to evaluate the appropriate algorithms to determine whether the mutation is the FD-causing mutation or not.
MeSH term(s)	Adolescent ; Adult ; Aged ; Algorithms ; Child ; Data Management/methods ; Fabry Disease/diagnosis ; Fabry Disease/genetics ; Female ; Genetic Variation/genetics ; Humans ; Male ; Middle Aged ; Mutation/genetics ; Pedigree ; Retrospective Studies ; Risk Factors ; Sequence Analysis, DNA/methods ; Young Adult
Language	English
Publishing date	2020-07-04
Publishing country	United Arab Emirates
Document type	Journal Article
ZDB-ID	2228325-0
ISSN	2212-3873 ; 1871-5303
ISSN (online)	2212-3873
ISSN	1871-5303
DOI	10.2174/1871530320666200708135826
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Article: A Case of Common Variable Immunodeficiency with CREBP Gene Mutation without Rubinstein Taybi Syndrome Features.

Musabak, Ugur / Ceylaner, Serdar / Erdogan, Tuba / Ayva, Ebru Sebnem

Case reports in immunology

2022 Volume 2022, Page(s) 4970973

Abstract: Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to ... ...

Abstract	Hypogammaglobulinemias, based on inborn errors of immunity, are primary immunodeficiencies (PIDs) that can also be diagnosed for the first time in adulthood. Common variable immunodeficiency (CVID) is a multifactorial disease often symptomatic due to antibody deficiency. In addition, some PIDs are classified into the category of immunodeficiencies with syndromic features due to their accompanying clinical findings unrelated to immunity. In this article, a patient with CVID who was diagnosed in adulthood and who was revealed to have a mutation specific to Rubinstein-Taybi syndrome and clinical features reminiscent of this syndrome only after molecular tests was presented.
Language	English
Publishing date	2022-07-04
Publishing country	Egypt
Document type	Case Reports
ZDB-ID	2695564-7
ISSN	2090-6617 ; 2090-6609
ISSN (online)	2090-6617
ISSN	2090-6609
DOI	10.1155/2022/4970973
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Article: Efficacy of abatacept treatment in a patient with enteropathy carrying a variant of unsignificance in

Musabak, Ugur / Erdoğan, Tuba / Ceylaner, Serdar / Özbek, Emre / Suna, Nuretdin / Özdemir, Binnaz Handan

World journal of clinical cases

2023 Volume 11, Issue 26, Page(s) 6176–6182

Abstract: Background: Cytotoxic T Lymphocyte Antigen-4 (CTLA4) deficiency is a genetic defect that causes a common variable immunodeficiency (CVID) clinical phenotype. Several studies have reported an association between CTLA mutations or variants and various ... ...

Abstract	Background: Cytotoxic T Lymphocyte Antigen-4 (CTLA4) deficiency is a genetic defect that causes a common variable immunodeficiency (CVID) clinical phenotype. Several studies have reported an association between CTLA mutations or variants and various autoimmune diseases. Targeted therapy models, which have become increasingly popular in recent years, have been successful in treating CTLA4 deficiency. In this article, we discuss the clinical outcomes of abatacept treatment in a patient with CTLA4 and lipopolysaccharide-responsive beige-like anchor (LRBA) variants that was previously diagnosed with CVID. Case summary: A 25-year-old female patient, who was visibly cachectic, visited our clinic over the course of five years, complaining of diarrhea. The patient was diagnosed with ulcerative colitis in the centers she had visited previously, and various treatments were administered; however, clinical improvement could not be achieved. Severe hypokalemia was detected during an examination. Her serum immunoglobulin levels, CD19 Conclusion: The heterozygous CTLA4 variant identified in the patient has been previously shown to be associated with various autoimmune diseases. The successful clinical outcome of abatacept treatment in this patient supports the idea that this variant plays a role in the immunopathogenesis of the disease. In the presence of severe disease, abatacept therapy should be considered until further testing can be conducted.
Language	English
Publishing date	2023-09-05
Publishing country	United States
Document type	Case Reports
ISSN	2307-8960
ISSN	2307-8960
DOI	10.12998/wjcc.v11.i26.6176
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Article ; Online: Early-onset progressive encephalopathy associated with NAXE gene variants: a case report of a Turkish child.

Incecık, Faruk / Ceylaner, Serdar

Acta neurologica Belgica

2019 Volume 120, Issue 3, Page(s) 733–735

MeSH term(s)	Age of Onset ; Brain Diseases/diagnostic imaging ; Brain Diseases/genetics ; Child, Preschool ; Disease Progression ; Fatal Outcome ; Genetic Variation/genetics ; Humans ; Male ; Racemases and Epimerases/genetics ; Turkey
Chemical Substances	NAXE protein, human (EC 5.1.-) ; Racemases and Epimerases (EC 5.1.-)
Language	English
Publishing date	2019-11-22
Publishing country	Italy
Document type	Case Reports ; Letter
ZDB-ID	127315-2
ISSN	2240-2993 ; 0300-9009
ISSN (online)	2240-2993
ISSN	0300-9009
DOI	10.1007/s13760-019-01242-z
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Article ; Online: A novel homozygous loss-of-function variant in SOD1 causing progressive spastic tetraplegia and axial hypotonia.

Çakar, Arman / Pekbilir, Emre / Ceylaner, Serdar / Durmuş, Hacer / Battaloğlu, Esra / Şahin, Umut / Parman, Yeşim

Amyotrophic lateral sclerosis & frontotemporal degeneration

2023 Volume 24, Issue 5-6, Page(s) 535–538

Abstract: ... ...

Abstract	SOD1
MeSH term(s)	Humans ; Infant ; Male ; Amyotrophic Lateral Sclerosis/genetics ; Muscle Hypotonia/genetics ; Mutation ; Superoxide Dismutase/genetics ; Superoxide Dismutase-1/genetics
Chemical Substances	SOD1 protein, human ; Superoxide Dismutase (EC 1.15.1.1) ; Superoxide Dismutase-1 (EC 1.15.1.1)
Language	English
Publishing date	2023-03-19
Publishing country	England
Document type	Case Reports ; Journal Article
ZDB-ID	2705049-X
ISSN	2167-9223 ; 2167-8421
ISSN (online)	2167-9223
ISSN	2167-8421
DOI	10.1080/21678421.2023.2189925
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Zs.A 5874: Show issues

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Article ; Online: Central Precocious Puberty in an Infant with Sotos Syndrome and Response to Treatment

Kontbay, Tuğba / Şıklar, Zeynep / Ceylaner, Serdar / Berberoğlu, Merih

Journal of clinical research in pediatric endocrinology

2021 Volume 14, Issue 3, Page(s) 356–360

Abstract: Sotos syndrome (SS) is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, ... ...

Abstract	Sotos syndrome (SS) is characterized by overgrowth, distinctive facial appearance, and learning disability. It is caused by heterozygous mutations, including deletions of NSD1 located at chromosome 5q35. While advanced bone age can occur in some cases, precocious puberty (PP) has only been reported in three cases previously. Here, we reported a case of SS diagnosed in the infancy period with central PP. The discovery of potential factors that trigger puberty is one of the central mysteries of pubertal biology. Depot gonadotropin-releasing hormone analogs constitute the first-line therapy in central PP (CPP), which has proven to be both effective and safe. In our cases, leuprolide acetate at maximum dose was not successful in controlling pubertal progression, and cyproterone acetate (CPA) was added to therapy, with successful control of pubertal progression. In some specific syndromes with PP, such as SS, treatment can be challenging. CPA may be an asset for effective treatment.
MeSH term(s)	Gonadotropin-Releasing Hormone/therapeutic use ; Humans ; Infant ; Leuprolide/therapeutic use ; Mutation ; Puberty ; Puberty, Precocious/drug therapy ; Puberty, Precocious/genetics ; Sotos Syndrome/complications ; Sotos Syndrome/drug therapy ; Sotos Syndrome/genetics
Chemical Substances	Gonadotropin-Releasing Hormone (33515-09-2) ; Leuprolide (EFY6W0M8TG)
Language	English
Publishing date	2021-05-20
Publishing country	Turkey
Document type	Case Reports ; Journal Article
ZDB-ID	2641608-6
ISSN	1308-5735 ; 1308-5727
ISSN (online)	1308-5735
ISSN	1308-5727
DOI	10.4274/jcrpe.galenos.2021.2020.0273
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