Bohring-Opitz syndrome (BOS) has been described as a clinically recognizable genetic syndrome since 1999. Clinical diagnostic criteria were established in 2011 and include microcephaly, trigonocephaly, distinctive craniofacial dysmorphic features, facial nevus flammeus, failure to thrive, and severe developmental delays. The same year, different de novo heterozygous nonsense mutations in the ASXL1 were found in affected individuals. Since then, several cases have been reported confirming the association between this chromatin remodeling gene and BOS. Most affected individuals die in early childhood because of unexplained bradycardia, obstructive apnea, or pulmonary infections. Those that survive usually cannot walk independently and are nonverbal. Some have had success using walkers and braces in late childhood. While few are able to speak, many have been able to express basic needs using communication devices as well as gestures with associated basic vocalizations. In this article, we present a mild case of BOS with a de novo pathogenic mutation c.1720-2A>G (p.I574VfsX22) in ASXL1 detected on whole-exome sequencing and confirmed by functional analysis of the messenger RNA splicing pattern on the patient's fibroblasts. She has typical dysmorphic features and is able to run and walk independently as well as to communicate with basic sign language.
Keywords: ASXL1; Bohring-Opitz syndrome; functional studies; mild.
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Bohring-Opitz SyndromeB Russell et al. PMID 29446906. - ReviewBohring-Opitz syndrome (BOS) is typically the result of a de novo pathogenic variant in ASXL1. When BOS results from a de novo variant, the risk to t …
Screening of CD96 and ASXL1 in 11 Patients With Opitz C or Bohring-Opitz SyndromesR Urreizti et al. Am J Med Genet A 170A (1), 24-31. PMID 26768331.Opitz C trigonocephaly (or Opitz C syndrome, OTCS) and Bohring-Opitz syndrome (BOS or C-like syndrome) are two rare genetic disorders with phenotypic overlap. The genetic …
Bohring-Opitz Syndrome Caused by an ASXL1 Mutation Inherited From a Germline Mosaic MotherE Bedoukian et al. Am J Med Genet A 176 (5), 1249-1252. PMID 29681100.Bohring-Opitz syndrome (BOS) is characterized clinically by severe developmental delays, microcephaly, failure to thrive, and characteristic facial features (prominent ey …
Bohring-Opitz Syndrome (BOS) With a New ASXL1 Pathogenic Variant: Review of the Most Prevalent Molecular and Phenotypic Features of the SyndromeSB Dangiolo et al. Am J Med Genet A 167A (12), 3161-6. PMID 26364555. - ReviewBohring-Opitz syndrome (BOS) was first described by Bohring et al. . The authors reported four cases which had several features in common, including a prominent met …
Clinical Management of Patients With ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor SurveillanceB Russell et al. Am J Med Genet A 167A (9), 2122-31. PMID 25921057.Bohring-Opitz syndrome is a rare genetic condition characterized by distinctive facial features, variable microcephaly, hypertrichosis, nevus flammeus, severe myopia, unu …