Department of Medical Genetics Ankara Etlik City Hospital
Flagship research programme

Rare Disease Genetics & Genomics

From deep phenotyping and variant interpretation to molecular diagnosis and discovery across rare genetic disorders.

Equal strategic prominence with Cancer Genetics & Genomics.

5 research themes · 49 publication records · 3 projects

Programme overview

The rare-disease programme combines detailed clinical phenotyping with genome-scale testing and careful variant interpretation. Its published output is concentrated in neurodevelopmental, syndromic, neuromuscular, metabolic and structural-variation disorders, including phenotype expansion and novel gene–disease evidence.

Theme 1

Neurogenetics & Neurodevelopmental Disorders

Epileptic encephalopathies, intellectual disability, movement disorders, ataxia, spasticity and related genomic disorders.

Work in this theme

Biallelic LGI1/ADAM23 hippocampal epileptic encephalopathy, biallelic PRMT9 loss-of-function in syndromic intellectual disability, SCA43 and SCA40 phenotype reports, METTL5- and MTHFS-related disorders, and a genomic cohort of patients with spasticity.

Publications (8)

A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorder

Kılıç M; İcil S; Sayar E; Doğan S; Gökçe-Altaş G; Güler E; Sezer A

Journal of Pediatric Endocrinology and Metabolism · 2026

DOI PubMed

Efficacy of risperidone and behavioral delineation in METTL5-related syndrome: a pooled analysis of literature and report of a novel variant

Gündoğdu Öğütlü ÖB; Baştan F; Sever Erdem Z; Öğütlü H; Erdem HB

Acta Neurologica Belgica · 2026

DOI PubMed

Spinocerebellar Ataxia Type 40 Presenting with Isolated Cervical Dystonia: Expanding the Phenotypic Spectrum

Onder H; Erdem HB; Ceylaner S; Comoglu S

Neurological Sciences · 2026

DOI PubMed

A novel NT5C2 Variant in a Family with Spastic Paraplegia and Intellectual Disability

Yasar D; Sezer A; Konuskan B; Yuksel D

Klinische Pädiatrie · 2025

DOI PubMed

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

Kröll-Hermi A et al.; includes Taşdelen E; Sezer A; Büke A

The American Journal of Human Genetics · 2025

DOI PubMed

All 8 records in this theme

Theme 2

Syndromic Disorders & Genotype–Phenotype Discovery

Dysmorphology, phenotype expansion, novel and rare syndromes, multilocus diagnoses and unusual inheritance.

Work in this theme

Mowat–Wilson and Coffin–Siris syndrome cohorts, CILK1-related cranioectodermal dysplasia, DNMT3A-related overgrowth, PIK3CA-related overgrowth, Okur–Chung syndrome phenotype broadening, and atypical biallelic inheritance in genes usually reported as dominant.

Publications (19)

A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome

Sayar E; Altas GG; Sezer A; Kolkiran A; Ucan B; Olgac A

Journal of Pediatric Endocrinology and Metabolism · 2026

DOI PubMed

Atypical Biallelic Inheritance in "Dominant" Genes: Evidence From a Large-Scale Consanguineus Exome Cohort

Taşdelen E; Tekbaş UC; Kolkıran A; Çetinkaya S; Kılıç M; Sezer A

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Broadening the Okur-Chung syndrome phenotype: adult-onset metabolic features and a contiguous 20p13 deletion in a Turkish multicenter cohort

Doğan Ç et al.; includes Mustafa Tarık Alay

Journal of Human Genetics · 2026

DOI PubMed

Clinical and Molecular Spectrum of PIK3CA-Related Overgrowth Syndrome: A Turkish Cohort

Taşdelen E; Sennaroğlu S; Kolkıran A; Kulalı MA; Kaplan İ; Alay MT; Yeşil Ş

Dicle Medical Journal · 2026

DOI

Expanding the Coffin-Siris syndrome spectrum: genetic, dysmorphic, and endocrine findings in eight cases

Kolkıran A; Kulalı MA; Daşar T; Kablan A; Taşdelen E; Atay G; Sarıkaya Özdemir B; Savaş Erdeve Ş

European Journal of Pediatrics · 2026

DOI PubMed

All 19 records in this theme

Theme 3

Neuromuscular & Skeletal Genetics

Neuromuscular disease, skeletal dysplasia, growth-plate disorders and structural alleles.

Work in this theme

A founder SGCG allele combining a missense variant with a multi-exon duplication, MMP13-related metaphyseal dysplasia, a 47-patient ACAN cohort, Kniest dysplasia, and an overlapping McArdle disease/dystrophinopathy presentation.

Publications (8)

A Founder Allele in SGCG Combining Missense Variant and Multi-Exon Duplication in Turkish Patients With Sarcoglycanopathy

Sezer A; Büke A; Kazan HH; Kablan A; Alay MT; Talim B; Yüksel D; Saat H

Clinical Genetics · 2026

DOI PubMed

ACAN-Related Short Stature and Skeletal Dysplasia: Expanding the Phenotypic and Genotypic Spectrum in a 47 Patient Cohort From Turkey

Kolkıran A; Sarıkaya Özdemir B; Sezer A; Kulalı MA; Daşar T; Savaş Erdeve Ş; Alay MT; Uçan B; Kablan A; Taşdelen E; Dinçsoy Bir F; et al.

American Journal of Medical Genetics Part A · 2026

DOI PubMed

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene

Kolkıran A; Daşar T; Taşdelen E; Kaya Ö

Molecular Syndromology · 2025

DOI PubMed

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months

Kolkiran A; Dasar T; Kablan A; Simsek-Kiper PO

Molecular Syndromology · 2025

DOI PubMed

MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets

Kolkiran A; Dasar T; Sezer A

Journal of Pediatric Endocrinology and Metabolism · 2025

DOI PubMed

All 8 records in this theme

Theme 4

Metabolic, Mitochondrial & Cardiovascular Genetics

Inherited metabolic and mitochondrial disorders and selected cardiovascular genetic disorders.

Work in this theme

PPM1K-related maple syrup urine disease, FBXL4-related mitochondrial DNA depletion, contiguous FUCA1/HMGCL deletion, hereditary fructose intolerance and phenylalanine metabolism cohorts, cardiomyopathy variant profiling, familial hypercholesterolaemia assessment, and HFE variant distribution.

Publications (10)

Distribution of HFE Gene Variants in Patients Undergoing Genetic Testing in Türkiye: A Retrospective Analysis of 643 Cases

Kablan A; Sezer A; Bakır A; Güneş AK; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Erdal H; Alay MT; Coşkun Y

The Eurasian Journal of Medicine · 2026

DOI PubMed

Genotypic and Phenotypic Characteristics of Turkish Patients with Hereditary Fructose Intolerance

Kılıç M; Sayar E; İcil S; Sezer A

Molecular Syndromology · 2026

DOI PubMed

Genotypic and Phenotypic Characteristics of Turkish Patients with Sjögren-Larsson Syndrome

İcil S; Kılıç M; Sayar E; Sezer A

Molecular Syndromology · 2026

DOI PubMed

Integrated Clinical, Molecular, and Machine Learning Assessment of Familial Hypercholesterolemia

Alay MT; Deniz A; Saat H; Erdem HB

Life · 2026

DOI PubMed

Evaluation of Mutation Profiles of Cardiomyopathy Patients in the Turkish Cohort

Bakir A; Saat H; Erdem HB; Tolunay H; Kazan HH

Bratislava Medical Journal · 2025

DOI

All 10 records in this theme

Theme 5

Cytogenomics & Structural Variation

Copy-number variants, high-resolution microarray, structural variation, multilocus genomic architecture and prenatal cytogenomics.

Work in this theme

A single-centre multilocus disease-causing genomic variation cohort, the phenotypic spectrum of 16p11.2 deletion, prenatal microarray in high-risk pregnancies, a prenatally diagnosed de novo 2p interstitial duplication, and an optical genome mapping project in Parkinson disease.

Publications (4)

Phenotypic spectrum in patients with 16p11.2 deletion: a single tertiary centre experience in Türkiye

Kablan A; Bakır A; Taşdelen E; Dinçsoy Bir F; Kolkıran A; Kulalı MA; Atasoy E; Menderes D; Efe A; Kılıç M; Erdal İ

The Turkish Journal of Pediatrics · 2026

DOI PubMed

Multilocus Disease-Causing Genomic Variations for Genetic Disorders: Single Tertiary Centre Experience From Türkiye

Kablan A; Sezer A; Bakır A; Taşdelen E; Dinçsoy Bir F; Erdem HB; Saat H; Alay MT; et al.

Clinical Genetics · 2025

DOI PubMed

Prenatally Diagnosed De Novo Interstitial Duplication in 2p21p24.3 with Unique Manifestations: Case Report

Kablan A; Sezer A; Bakir A; Kolkiran A; Saat H

Molecular Syndromology · 2025

DOI PubMed

The Diagnostic Utility of Prenatal Microarray in High-Risk Pregnancies: A Single-Center Experience in Enhancing Reproductive Care and Risk Stratification

Bakır A; Alay MT; Tekbaş UC; Sucu S; Kalay I; Saat H

Diagnostics · 2025

DOI PubMed

Projects in this programme

All projects

Ongoing · TÜSEB A Group Emergency R&D

Investigation of Structural Variants in Parkinson Disease Patients with Heterozygous PRKN Variants Using Optical Genome Mapping

Researcher · 11 July 2025 – present

Rare Disease Genetics

Ongoing · TÜBİTAK

Angelman Syndrome in Children: Sensiz As'La

Researcher · 22 May 2024 – present

Rare Disease Genetics

Completed · Higher Education Institution research project

Mitochondrial DNA Copy Number Alterations and Amyloidosis Risk in Familial Mediterranean Fever

Researcher · 4 June 2016 – 4 December 2018

Rare Disease Genetics

Related clinical genomics capability

Full spectrum

Research and diagnostic service are described separately. These pages set out the department’s clinical capability and are informational only.