PMC5972145_01
Current characteristic features of the patient and genetic analysis results.. a Entire body of the patient. Developmental disturbance and right clubfoot are noted. b Coarse face with proptosis, right strabismus, and prominent broad nose. c Microcephaly and retromicrognathia. d Prominent middle and distal interphalangeal joints, wrinkled extremities, and broad thumb fingernails. e X-ray at 14 years of age reveals agenesis of patellae. f Contrast-enhanced computed tomography of the ileus at 15 years of age reveals pyelectasis and thin renal parenchyma. 1, 2, 3 Sanger sequencing reveals a c.3603-3606 deletion, a de novo, heterogeneous mutation in this patient
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Fig1
SD, equal to that at 6 years of age), and body weight 24.0 kg (obesity index 5.0%). She has prominent middle and distal interphalangeal joints, single palmer creases, wrinkled extremities, and broad thumb fingernails (Fig. 1). Undiagnosed Diseases (pediatrics), the nationwide consortium by the Japan Agency for Medical Research and Development. Using mutational screening by next-generation and direct Sanger sequencing, we identified a novel de novo heterozygous mutation: c.3603_3606 deletion (p.R1201fs) in exon 17 of KAT6B (Fig. 1,1).
Schematic of KAT6B.. Schematic of the KAT6B protein, gene and phenotype. A clumped distribution of typical genitopatellar syndrome at the Asp/Glu-rich acidic domain is obvious. The mutation in our patient (indicated by a red arrow) is located in a region neighboring the reported GPS region. The terminal region is mainly involved in the interaction of SBBYSS with Runx1 and Runx2
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Fig2
The mutation in our case, which is located 4 codons upstream of a previously reported region at an Asp/Glu-rich acidic domain (Fig. 2), is hypothesized to be disease-causing.
PMC5972145_02
PMC5972145_03