A case of microdeletion of 19p13 with intellectual disability, hypertrichosis, synophrys, and protruding front teeth

We present a de novo 1.4 Mb deletion of chromosome 19p13.11-p13.12 in a 16 year old boy with intellectual disability, autistic features, microcephaly, hearing impairment, hypertrichosis, synophrys, protruding front teeth, and other dysmorphic features. By comparing our patient to reported cases with overlapping deletions, we have refined the minimal critical region of hypertrichosis, synophrys, and protruding front teeth to 305 kb, a region containing seven genes. CASP14, which is considered a good candidate gene for hypertrichosis, is not included in this region, questioning the causal relationship.

► Another report of a deletion on 19p13.
► Deletions in this area are rare.
► Clinical and dysmorphic similarities between the reported cases are considered.
► Our case questions the role of CASP14 as a candidate gene for hypertrichosis as suggested elsewhere.
► Our case questions the role of EPS15L1 as a candidate gene for split hand foot malformation as suggested elsewhere.