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. 2017 Dec 21;102(1):27–43. doi: 10.1016/j.ajhg.2017.10.002

Figure 3.

Figure 3

Identified Biallelic Variants in NXN

(A) Pedigrees and Sanger sequencing traces for the two families with variants in NXN; a homozygous stop gain in BAB8841 (family HOU3189) and a heterozygous 3-bp in-frame deletion in BAB9847 and BAB9844 (family HOU3634).

(B) High-density arrays and breakpoint mapping showing the second mutant allele in BAB9847 and BAB9844. The deletion is mediated by two highly similar Alu elements in direct orientation that flank the first coding exon.

(C) Facial pictures demonstrating shared facial features including high forehead, prominent eyes, broad and low nasal bridge, broad nasal tip, anteverted nares, and micrognathia.