Fig. 1

The brittle hair of the patient and G insertion identified in the patient. a The typical alternating dark and light “tiger tail” banding was seen by polarized light microscopy in hair of the patient. b The typical alternating dark and light “tiger tail” banding was not seen by polarized light microscopy in hair of the patient’s mother. c to f The Sanger sequencing of the mutated region in MPLKIP for the patient, her mother, her father and her elder brother, respectively. g The position of the G insertion in the MPLKIP gene. Query is the sequence obtained in Sanger sequencing. Ref. is the sequence of MPLKIP mRNA (NM_138701.3). h The amino acid sequences of wild type MPLKIP gene (top) and the mutated MPLKIP gene with the identified G insertion. Only the first 58 amino acids of the wild type MPLKIP protein are shown. i The G insertion was examined in UCSC Genome Browser to be compared to the dbSNP (v150). The G insertion in MPLKIP is rs747470385 (-/G), as indicated by the blue rectangle