Supplementary Figure 1: Pictures and x-rays of hand malformations. Phenotype is
variable, ranging from triphalangeal thumb, biphalangeal partly duplicated thumb,
preaxial extra ray to syndactyly between digits I and II. Most patients have benefited
from surgical correction of the hand malformation.
Supplementary Figure 2: Pictures and x-rays of foot malformations. Phenotype was
variable, ranging from large to duplicated hallux, potentially associated with syndactyly
between first and second rays.
Supplementary Figure 3: Pictures showing upper back hypertrichosis, starting as a low
posterior hairline and spreading down to the middle of the back.
Supplementary Figure 4: Lod-Scores results after linkage analysis in the polydactylyhypertrichosis family showing that the condition is mapped to the 7q36 locus (indicated
by the arrow).
Supplementary Figure 5: Structure of the 2026 bp sequence that is deleted in PPDhypertrichosis family (chr7.hg19:g.155845627_155847652). Up: Location of the
predicted binding sites for NKX, GATA, ETS, and HAND transcription factors families.
Middle: Multi-alignments showing inter-species conservation. Bottom: Location and
nature of repetitive elements along the sequence.
Supplementary Table 1: Sequence of primers used for cloning the 2026 bp region.
Supplementary Table 2: Evolutionary conserved regions among the candidate locus for
polydactyly-hypertrichosis
family
(chr7.hg19:g.155809123_157947033).
ECR:
evolutionary conserved region; mm10: mouse; galGal3: chicken.
Supplementary Table 3: Occurrence of transcription factors binding sites in the 2026 bp
sequence, predicted in silico by the MatInspector® software (Genomatix). Only
transcription factors with more than two binding sites on the sequence and a matrix
similarity over 95% are cited.
Supplementary Table 4: Differential diagnoses for the PPD-hypertrichosis syndrome.
AD: Autosomal Dominant.