Intellectual developmental disorder with dysmorphic facies and ptosis caused by copy number variation including the BRPF1 gene in Peruvian patient

Hugo H. Abarca-Barriga, Felix Chavesta Velásquez, Renzo Punil Luciano

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Intellectual developmental disorder with dysmorphic facies and ptosis (MIM #617333) is a very rare condition, characterized by more than 80% by language delay, intellectual disability, gross motor development delay, broad nasal bridge, hypertelorism, and hypotonia. This condition exhibits as autosomal dominant inheritance and is caused by a heterozygous variant in the BRPF1 gene. Additionally, the copy number variation in the terminal region of chromosome 3p (MIM #613792) has been shown to manifest in most patients as intellectual disability, motor delay, and hypotonia. Case presentation: We present an 18-year-old male patient with facial dysmorphism, intellectual disability, ptosis, and congenital heart disease. Using chromosomal microarray analysis, a previously unreported 90 kb deletion involving seven genes was found. Conclusion: When comparing our findings with 39 previous reports, we found that the common clinical features of this syndrome, such as gross motor delay, hypotonia, and congenital spinal cord abnormalities, were not observed in this patient. From the seven genes implicated in the deletion, only BRPF1 could be strongly correlated with the phenotype, according to its function and haploinsufficiency coefficients.

Original languageEnglish
Article number141
JournalEgyptian Journal of Medical Human Genetics
Volume23
Issue number1
DOIs
StatePublished - Dec 2022
Externally publishedYes

Keywords

  • BRPF1
  • Blepharophimosis
  • Blepharoptosis
  • Haploinsufficiency
  • Intellectual disability

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