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DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability.
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
NALCN is the gene responsible for INAD with facial dysmorphism, which forms a voltage-independent ion channel with a role in the regulation of neuronal excitability and testing infants with idiopathic severe growth retardation and neurodegeneration for NALCN mutations could benefit families.
Novel recessive cone-rod dystrophy caused by POC1B mutation.
POC1B is a novel gene for a new disease typical of CORD except that patients did not report night blindness, and Screening for Poc1B mutation could benefit families afflicted with CORD.
A novel recessive 15-hydroxyprostaglandin dehydrogenase mutation in a family with primary hypertrophic osteoarthropathy
- E. Erken, Ç. Köroğlu, F. Yıldız, H. Özer, B. Gülek, A. Tolun
- MedicineModern rheumatology
- 25 April 2013
Skin, soft tissue and joint ultrasonography can be helpful for evaluation of the musculoskeletal findings in the patients, although not specific for this disease.
Severe neurodegenerative disease in brothers with homozygous mutation in POLR1A.
These findings provide the first report showing a complex leukodystrophy associated with POLR1A, as a clinically unaffected sister of two brothers born to consanguineous parents was homozygous for the OSBPL11 variant.
A homozygous frameshift mutation of sepiapterin reductase gene causing parkinsonism with onset in childhood.
A homozygous 237-kb deletion at 1p31 identified as the locus for midline cleft of the upper and lower lip in a consanguineous family
- Yeşerin Yıldırım, M. Kerem, Ç. Köroğlu, A. Tolun
- MedicineEuropean Journal of Human Genetics
- 1 March 2014
A consanguineous family afflicted with a unique form of orofacial clefting manifesting as a facial midline defect that also involves mandibular and maxillary structures is described.
GNE missense mutation in recessive familial amyotrophic lateral sclerosis
- Ç. Köroğlu, R. Yılmaz, M. Sorgun, S. Solakoğlu, Ö. Şener
- Biology, Medicineneurogenetics
- 31 October 2017
The clinical findings in a consanguineous family with five men afflicted with recessive ALS and the identification of the homozygous mutation responsible for the disorder are described and it is proposed that the GNE mutation underlies the pathology in the family.
Characterization of exome variants and their metabolic impact in 6,716 American Indians from Southwest US
It is found that individuals of SWAI have distinct allelic architecture compared to individuals with European and East Asian ancestry, with many predicted loss-of-function (pLOF) and nonsynonymous variants that were highly enriched or private in SWAI.
Exome sequencing identifies a nonsense variant in DAO associated with reduced energy expenditure in American Indians.
The results indicate that a nonsense mutation in DAO may influence EE in American Indians, and identification of variants that influence energy metabolism may lead to new pathways to treat human obesity.