A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy

Figures

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  FIGURE 1. Transverse T1-weighted MRI of thighs and calf muscles of patients harboring INPP5K mutations. Pt #1 (A,D), Pt #2 (B,E), Pt #3 (C,F), pt #4 (D,G). At thigh level, an involvement of vasti muscles (V) are relative sparing of rectus femoris (RF) in patients #1and #4 (A,D). In the posterior thigh, sartorius (Sar), gracilis (Gra), and to a lesser extent, semitendinosus (ST) were relatively spared (E,H). At the lower leg level, anterolateral compartment (tibialis anterior-T ant- and peronei –Per-) and soleus (Sol) were similarly affected, with relative sparing of both gastrocnemii (GMed and GLat) muscles mainly in #4 (H). In the youngest patient, the MRI did not disclose significant abnormalities (C,G) on T1-weighted images.

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  FIGURE 2. The common haplotype showing the minimal common region among the six patients. As can be seen, the nine alleles with the INPP5K c.67G > A variant (in red) shared a common region between rs3752827 and rs7342891 (213 kb). In blue, the other three INPP5K variants in compound heterozygosis with the founder c.67G > A variant. Segregation analysis in both parents of the six patients allowed to reconstruct parental genotype. P, paternal allele; M, maternal allele. * Patient already reported by Osborn et al. (2017).