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- Title
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONOassociated X-linked syndromic intellectual developmental disorder.
- Authors
Writzl, Karin; Mavčič, Blaž; Maver, Aleš; Hodžić, Alenka; Peterlin, Borut
- Abstract
The NONO gene encodes a nuclear protein involved in transcriptional regulation, RNA synthesis and DNA repair. Hemizygous loss-of function, de novo or maternally inherited variants in NONO have been associated with an X-linked syndromic intellectual developmental disorder-34 (OMIM # 300967), characterized by developmental delay, intellectual disability, hypotonia, macrocephaly, elongated face, structural abnormalities of corpus callosum and/or cerebellum, congenital heart defect and left ventricular noncompaction cardiomyopathy. Few patients have been described in the literature and the phenotype data are limited. We report a 17-year-old boy with dolihocephaly, elongated face, strabismus, speech and motor delay, intellectual disability, congenital heart defect (ASD, VSD and Ebstein's anomaly), left ventricular non-compaction cardiomyopathy, bilateral inguinal hernia and cryptorchidism. Additional features included recurrent fractures due to multiple non-ossifying fibromas, thrombocytopenia, and renal anomalies. Exome sequencing revealed a de novo pathogenic variant (NM_001145408.2: c.348+2_ 348+15del) in intron 5 of the NONO gene. Renal anomalies and thrombocytopenia have been rarely reported in patients with NONO--X-linked intellectual disability syndrome, while recurrent fractures due to multiple nonossifying fibromas have not previously been associated with this syndrome. The phenotypic spectrum of NONO--X-linked intellectual disability syndrome may be broader than currently known.
- Subjects
EBSTEIN'S anomaly; FIBROMAS; FRAGILE X syndrome; EXOMES; CONGENITAL heart disease; RNA synthesis; DEVELOPMENTAL delay
- Publication
Frontiers in Genetics, 2023, p1
- ISSN
1664-8021
- Publication type
Article
- DOI
10.3389/fgene.2023.1167054