dc.contributor.author | YALÇINKAYA, CENGİZ | |
dc.contributor.author | Gunel, Murat | |
dc.contributor.author | ULUDAĞ ALKAYA, DİLEK | |
dc.contributor.author | Gleeson, Joseph G. | |
dc.contributor.author | Bilguvar, Kaya | |
dc.contributor.author | ÇAĞLAYAN, AHMET OKAY | |
dc.contributor.author | TÜYSÜZ, BEYHAN | |
dc.contributor.author | Gul, Ece | |
dc.date.accessioned | 2022-07-04T16:11:39Z | |
dc.date.available | 2022-07-04T16:11:39Z | |
dc.identifier.citation | ÇAĞLAYAN A. O. , TÜYSÜZ B., Gul E., ULUDAĞ ALKAYA D., YALÇINKAYA C., Gleeson J. G. , Bilguvar K., Gunel M., "Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome", JOURNAL OF HUMAN GENETICS, 2022 | |
dc.identifier.issn | 1434-5161 | |
dc.identifier.other | vv_1032021 | |
dc.identifier.other | av_d8693dfb-4a96-4699-bb08-a18de861690c | |
dc.identifier.uri | http://hdl.handle.net/20.500.12627/184910 | |
dc.identifier.uri | https://doi.org/10.1038/s10038-022-01032-1 | |
dc.description.abstract | Heterozygous mutations in Bicaudal D2 Drosophila homolog 2 (BICD2) gene, encodes a vesicle transport protein involved in dynein-mediated movement along microtubules, are responsible for an exceedingly rare autosomal dominant spinal muscular atrophy type 2A which starts in the childhood and predominantly effects lower extremities. Recently, a more severe form, type 2B, has also been described. Here, we present a patient born to a consanguineous union and who suffered from intellectual disability, speech delay, epilepsy, happy facial expression, truncal obesity with tappering fingers, and joint hypermobility. Whole-exome sequencing analysis revealed a rare, homozygous missense mutation (c.731T>C; p.Leu244Pro) in BICD2 gene. This finding presents the first report in the literature for homozygous BICD2 mutations and its association with a Cohen-Like syndrome. Patients presenting with Cohen-Like phenotypes should be further interrogated for mutations in BICD2. | |
dc.language.iso | eng | |
dc.subject | Yaşam Bilimleri | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | Temel Bilimler | |
dc.subject | Genetics | |
dc.subject | Molecular Biology | |
dc.subject | Genetics (clinical) | |
dc.subject | Life Sciences | |
dc.subject | Health Sciences | |
dc.subject | Dahili Tıp Bilimleri | |
dc.subject | Tıbbi Genetik | |
dc.subject | Sağlık Bilimleri | |
dc.subject | Tıp | |
dc.subject | Yaşam Bilimleri (LIFE) | |
dc.subject | Moleküler Biyoloji ve Genetik | |
dc.subject | GENETİK VE HAYAT | |
dc.title | Biallelic BICD2 variant is a novel candidate for Cohen-like syndrome | |
dc.type | Makale | |
dc.relation.journal | JOURNAL OF HUMAN GENETICS | |
dc.contributor.department | Dokuz Eylül Üniversitesi , Sağlık Bilimleri Enstitüsü , | |
dc.contributor.firstauthorID | 3404182 | |