Phenotype and pedigrees of the proband with ITPR1 mutation. (A–H) Photos of the proband and his father, note the facial asymmetry, microtia (white arrowhead), dysfunction of the zygomatic branch of the facial nerve (black arrowhead), proband also suffered from macrostomia (star). (I–L) Facial CT scans with bone reconstruction and panoramic film of the proband showed hypoplasia of the left mandible ramus (black arrow) and the soft tissues (white arrow). (M) Pedigrees of the family, the proband, proband’s father, the proband’s great grandfather diagnosed with HM. (N–P) Sanger sequencing verified the mutation in the proband (N), his father (O), and proband’s mother. (Q–T) Molecular modeling by PDB’s information, blue indicates the suppressor domain, cyan represented IP3 binding core, green, orange, and red represented α-helical domain 1, 2, and 3, respectively. White indicates the point of a missense mutation, (R) leucine of the wild-type, which is a short-chain amino acid, (S) to proline (mutant), which has a benzene ring. (T) Domain illustration of ITPR1. (U) Alignment of amino acids, spanning 14 residues in diverse species, showing that this position is highly conserved (highlighted with red circle).
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