Prader-Willi-Like Phenotype Caused by an Atypical 15q11.2 Microdeletion.

ABSTRACT: We report a 17-year-old boy who met most of the major Prader-Willi syndrome (PWS) diagnostic criteria, including infantile hypotonia and poor feeding followed by hyperphagia, early-onset morbid obesity, delayed development, and characteristic facial features. However, unlike many children with PWS, he had spontaneous onset of puberty and reached a tall adult stature without growth hormone replacement therapy. A phenotype-driven genetic analysis using exome sequencing identified a heterozygous microdeletion of 71 kb in size at chr15:25,296,613-25,367,633, genome build hg 19. This deletion does not affect the SNURF-SNRPN locus, but results in the loss of several of the PWS-associated non-coding RNA species, including the SNORD116 cluster. We compared with six previous reports of patients wit

SUBMITTER: Tan Q 

PROVIDER: S-EPMC7073628 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature