Lobster Man Case Study

This mutant humanoid was found performing at a carnival freak show with a sign above him, dubbing him “Lobster Man.” He was cognitively normal and appeared normal except for his hands and feet (Basel, Kilpatrick & Tsipouras 2006; and van Silfhout, et al. 2009). The 1st digits were also normal, but on each hand/foot, digits 2 and 3 looked as if were fused together as were digits 4 and 5. Upon further investigation, it was seen that the 2nd, 3rd, and 4th rays weren’t present at all (Gulia & Marwah, 2013). After he went through genetic testing, it was found that he had split hand/foot malformation type 1 which involves mutations in genes DLX5, DLX6, and DSS1, all located on chromosome 7 (van Silfhout, et al. 2009; and Elliott, Reed, Roscioli, …show more content…
2004). When testing our Lobster Man for these common symptoms, he didn’t show any of them except for minor hearing loss. Because formation of the inner and middle ear is associated with chromosome 7 as well, it is easy to understand why this appears. Near the SHFM locus are deafness genes DFNB14, DFNB17, and PDS. DFNB14 overlaps the SHFM locus, meaning the mutation must have carried over, making Lobster Man exhibit some deafness and sensitivities to sounds (Fukushima, et al.,2003; and Basel, Kilpatrick, & Tsipouras, …show more content…
There are cases of human mutations in the gene IGF1 of the insulin-like growth factors in which ossification is inhibited early causing some bones not to form or growth impairment (Agrogiannis, Sifakis, Patsouris, & Konstantinidou, 2014). In this case however, it would be the opposite, meaning that the process was inhibited late, making the extra bone deposits form where Lobster Man has his exoskeleton. The spicules of bone placed in this area from overproduction could have gone on to form these bone plates. Also, there would be a mutation in Ihh, the bone morphogenic proteins and fibroblast growth factor 18, making the bones form (Ortega, Behonick, & Werb,