Novel NR2F1 variant identified by whole-exome sequencing in a patient with Bosch–Boonstra–Schaaf optic atrophy syndrome

Autor: Ayca Kocaaga, Sevgi Yimenicioglu, Haluk Hüseyin Gürsoy
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Indian Journal of Ophthalmology, Vol 70, Iss 7, Pp 2762-2764 (2022)
Druh dokumentu: article
ISSN: 0301-4738
1998-3689
DOI: 10.4103/ijo.IJO_1061_22
Popis: Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is an extremely rare autosomal dominant disorder characterized by intellectual disability, developmental delay, seizures, hypotonia, hearing loss, and optic nerve atrophy. This syndrome is caused by loss-of-function variants in the nuclear receptor subfamily 2 group F member 1 (NR2F1) gene. To date, approximately 80 patients have been reported with BBSOAS. Here, we describe a 3-year-old infant with delayed development, intellectual disability, strabismus, nystagmus, and optic atrophy with well-characterized features associated with BBSOAS. Whole-exome sequencing revealed a novel heterozygous missense mutation (NM_005654.6:c.437G>A, p.Cys146Tyr) in the NR2F1 gene. This missense variant is predicted to be deleterious by the protein prediction tools (SIFT, PolyPhen-2, and MutationTaster). To the best of our knowledge, this is the first patient with BBSOAS reported from Turkey.
Databáze: Directory of Open Access Journals
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