PMC6877748_01
Clinical and imaging features of the proband (A) The picture illustrates the facial dysmorphic features consisting of microcephaly, micrognathia, deep-set eyes, large ears, pointed nasal tip, and a downturned mouth. Written informed consent for publication of medical data and identifiable images was obtained from the parents of the patient. (B). Brain MR images showed mild prominence of lateral ventricles, enlarged pericerebral spaces, high palate, delayed myelination, and a thin corpus callosum when the girl was at 4 years of life.
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Typical facial dysmorphisms included deep-set eyes, pointed nasal tip, large ears, a downturned mouth, and micrognathia (Figure 1A). A cerebral magnetic resonance imaging (MRI) showed mild widened lateral ventricles, enlarged pericerebral spaces, high palate, a thin corpus callosum, and delayed myelination but without structural congenital anomalies (Figure 1B).
Genetic findings from the family. (A) Pedigree of the family with segregation of the identified DYRK1A mutation. The square represents male, and circles represent female. Filled symbol indicates the affected individual. (B) Visualization of mutation in the DYRK1A gene is shown on the Integrative Genomics Viewer. Variation c.930C > A was heterozygous in the proband. (C) The variation of c.930C > A is a nonsense mutation (p.Tyr310*) identified in the proband. The parents were tested and did not carry the mutation. Black arrows indicate the point mutation.
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Nevertheless, none of the mutation at this site was found in her parents (Figures 2A, B). Sanger sequencing confirmed this conclusion (Figure 2C).