Figure legends
Fig. 1 Pedigree of the Chinese family with JATD. □, male ○,
female; ■, male patient; ●, female patient; ↗, proband.
Fig.2 Clinical and radiological features of the JATD proband.
A. the proband manifested with small
chest,
short extremities with short fingers and toes, and deformity teeth. B.
X-rays of the proband show shortening of the ribs, fingers and toes.
Fig.3 The
funduscopy
revealed the presence of bilateral retinitis pigmentosa in the proband.
Fig.4 The verification of c.2789C>T variant in the
porband and normal individual by Sanger sequence (A) and Evolutionary
conservation of
the
site of 930 Serine by multiple sequence alignment of WDR60 protein
across different species (B).
Table1Clinical features and biochemical data of the patienton
admission in our hospital for the first time.