BRPF1‐associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development. Issue 6 (3rd March 2022)

• Record Type: Journal Article
• Authors: Souza, Josiane; do Valle, Daniel Almeida; Santos, Mara Lucia Schmidt Ferreira; Colomé, Fernanda Bonilla; Teive, Helio Afonso Ghizoni; da Silva Freitas, Renato; Herai, Roberto Hirochi
• Is Part Of: American journal of medical genetics. Volume 188:Issue 6(2022)
• Page Start: 1875
• Page End: 1880
• Publication Date: 2022-03-03
• Subjects: atlanto‐axial malformation -- BRPF1 gene -- dysmorphic features -- intellectual disability -- ptosis; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.62706
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract: In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis (IDDDFP, OMIM # 617333). Later, another 20 patients were also described by distinct reports, suggesting IDDDFP could be a more frequent cause of intellectual disability as it was thought before. Here, we describe a patient with normal intellectual development who had congenital ptosis, hypotonia, muscular weakness, atlanto‐axial malformation, and pyramidal at the neurological examination. The patient has a rare nonsense variant on exon 3 of BRPF1 gene. We also describe a phenotypic amplification for conditions related to deficiency in histone modifications.