ROHHAD and Prader-Willi syndrome (PWS): clinical and genetic comparison

Table 1 Sequence Analysis of Paternal-Only Expressed Genes Within the Prader-Willi Syndrome Region (PWS Region)

PWS Region Gene	Region Analyzed^a (Ensembl GRCh37 release 89^b)	Percent of Analyzed Bases Covered > 20× by NGS
MKRN3	chr15:23810929–23812453	100
MAGEL2	chr15:23889139–23892889	71 (100% by Sanger sequencing)
NDN	chr15:23931398–23932364	68 (Previously excluded [5])
NPAP1	chr15:24921014–24924485	91 (100% covered > 10×)^c
SNURF-SNRPN	chr15:25219600-25219603	91 (100% covered > 10×)^c
	chr15:25220504–25220656
	chr15:25221451–25221563
	chr15:25222023–25222176
	chr15:25222924–25223063
	chr15:25223339–25223465
	chr15:25223553–25223591
SNORD107	chr15: 25227140–25227215	100
SNORD64	chr15: 25230246–25230313	100
SNORD109A	chr15:25287120–25287187	100
SNORD116 (cluster)	See Additional file 1	100
SNORD115 (cluster)	See Additional file 1	98^d
SNORD109B	chr15:25523489–25523556	100

^aFor the protein-coding genes, the coding region is listed; for the non-coding transcripts (snoRNA genes), the transcribed region is listed
^bThe coding region of MAGEL2 is according to UCSC
^c10× coverage allows for reasonably confident variant calling, and since 91% was covered at > 20×, and 9% was covered between 10×-20×, these genes were considered to be adequately covered by the NGS
^d42/44 members of the cluster (all except the two shorter members, SNORD115–45 and SNORD115–47; see Additional file 1) were completely covered at > 20×

ISSN: 1750-1172