Open AccessBiallelic BICD2 variant is a novel candidate for Cohen-like syndrome
Author(s) -
Ahmet Okay Çağlayan,
Beyhan Tüysüz,
Ece Gül,
Dilek Uludağ Alkaya,
Cengiz Yalçınkaya,
Joseph G. Gleeson,
Kaya Bilgüvar,
Murat Günel
Publication year - 2022
Publication title -
journal of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 82
eISSN - 1435-232X
pISSN - 1434-5161
DOI - 10.1038/s10038-022-01032-1
Subject(s) - missense mutation , genetics , biology , exome sequencing , phenotype , spinal muscular atrophy , exome , mutation , gene
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.