Fig. 1: Yield of study and mode of inheritance.

a Yield of study, by gene, for 22 patients with a genetic diagnosis. The proportion of genetic diagnoses found in the relevant genes is shown in this chart. The group of rarely reported genes includes six genes: COL4A1, PXDN, CPAMD8, ADAMTS17, ITPR1, and GJA8 (two variants). b Mode of inheritance, before and after testing, for the 22 patients with a genetic diagnosis. This figure demonstrates the breakdown of inheritance among the 22 solved cases. On referral, 19/22 were thought to be sporadic, and 3 familial with autosomal dominant (AD) inheritance. After testing, of the sporadic cases, 11 were found to be due to de novo autosomal dominant variants, 6 were due to autosomal recessive (AR) inheritance, and 2 were familial autosomal dominant cases with subtle clinical features in parents. Of the 3 familial cases, 2 were confirmed as familial autosomal dominant and one was found to be due to autosomal recessive inheritance in an inbred population group leading to pseudodominance. Hence overall after testing, there were 11 de novo autosomal dominant cases, 4 familial autosomal dominant cases, and 7 autosomal recessive cases.