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. 2016 Jul 7;99(1):236–245. doi: 10.1016/j.ajhg.2016.05.026

Figure 1.

Figure 1

Rank 1 Families Selected for Exome Sequencing and Sanger Sequencing of the Four KLHL7 Mutations Found

(A) Family pedigrees of individuals with KLHL7 mutations. Symbols and colors are defined as follows: square, male; circle, female; white, unaffected; dot, unaffected carrier; black, affected.

(B) Sanger sequencing of four KLHL7 mutations found in the four Turkish consanguineous families. Mutation status of KLHL7 is indicated beneath symbols for each subject: +/−, heterozygous carriers; +/+, homozygous for KLHL7 mutation. Panels shows wild-type, heterozygous, and homozygous status for M1 (c.1261T>A [p.Cys421Ser]), M2 (c.1022delT [p.Leu341Trpfs∗9]), M3 (c.1258C>T [p.Arg420Cys]), and M4 (c.1115G>A [p.Arg372Gln]), respectively.

(C) Clinical features of CS_258 (top left at the age of 3 years and 10 months and bottom left at the age of 7 years old) and CS_259 (right at the age of 5 months) from family F. Written informed consent for publication of their clinical images was obtained from their parent.