“…Two genes ( miR1281 and miR6889 ) are provisional sequences possibly encoding for microRNAs, whereas EP300‐AS1 generates a long noncoding RNA. Protein coding genes includes: (1) ZC3H7B , a nuclear protein with a role in nuclear export of cytoplasmic poly(A)‐binding protein (PABP‐C1) [Harb et al., ]; (2) L3MBTL2 (MIM #611865), an integral component of Polycomb repressive complexes essential to compact chromatin and promote transcriptional repression of target genes [Trojer et al., ]; (3) CHADL (MIM #616236), encoding chondroadherin‐like, a small leucine‐rich protein expressed in the extracellular matrix of cartilage cells [Tillgren et al., ]; (4) RANGAP1 , codifying for the GTPase activator of the nuclear Ras‐related regulatory protein Ran, able to regulate the shuttle activity between nucleus and cytoplasm for proteins and ribonucleoproteins [Bischoff et al., ]; (5) TEF , coding for a bZIP transcription factor whose expression is diffused in adult tissues but restricted to the anterior pituitary during embryonic development in combination with the appearance of thyroid‐stimulating hormone beta (TSHB) [Drolet et al., ]; and (6) TOB2 gene, whose product belongs to the BTG/Tob family of proteins implicated in transcription, mRNA turnover and regulation of cell cycle progression, and contributing to cell type specific activities in different tissues [Winkler GS, ] ( A ). Histograms derived from qPCR reporting the relative DNA copy number of the two investigated regions (probe 1 in red/dark and probe 2 in pink/light) in proband, mother, and father compared with controls.…”