“…Because the deleted region contains UBE2A, a gene causative of a putative XLMR syndrome through a nonsense mutation, 5 and his phenotype except the cardiovascular abnormalities and proximal placement of the thumb is almost concordant with that in reported cases of UBE2A nonsense mutations, 5 for example, marked developmental delay, synophrys, ocular hypertelorism, low nasal bridge, marked generalized hirsutism and seizure (Table 1), the novel syndromic XLMR may be caused by a functional defect of UBE2A not UBE2A deletion in XLMR S Honda et al only due to the mutation by base substitution 5 but also due to the cryptic chromosomal deletion. Interestingly, he showed defects of an additional nine transcripts, including one microRNA and four predicted transcripts, around UBE2A (Figure 1f), suggesting genes other than UBE2A within the region to be responsible for some of the abnormalities, such as the congenital heart diseases, esotropia and proximal placement of the thumb, which were not described in the cases reported by Nascimento et al, 5 although none of these nine transcripts has been described as a disease-associated gene.…”