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. 2018 Nov 26;14(11):e1007817. doi: 10.1371/journal.pgen.1007817

Fig 1. KIF6 mutation in a child with intellectual disability.

Fig 1

(A) A low-set prominent anti-helical left pinna. (B) MRI of the brain at 7 months-old shows dolichocephaly with a normal brain structure. (C) and (D) CT of the brain at 8 years-old, sagittal and axial views, respectively show dolichocephalic shape of the cranium (cephalic index = 75) without demonstrable intracranial abnormality. (E) X-ray of the spine shows no scoliosis (F) Electropherograms of the patient, a control, the patient’s father, mother, and unaffected brother from top to bottom. The patient is homozygous for the c.1193delT mutantion while his father, mother, and unaffected brother are all heterozygous carriers. (G) Pedigree and RFLP, using MfeI restriction enzyme: Lane M = 100 bp marker. The arrow head indicates the 500 bp band. Lanes 1–5 are controls. Lanes 6 and 7 are the proband’s father and mother, respectively, showing that they are heterozygous. Lane 8 is the proband showing that he is homozygous for the c.1193delT. (H) Representative KIF6 structure. The arrow shows the position of the c.1193delT mutation.