Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion

Table 1

Deleted elements in the region with associated known function.

Deleted elements	Function
E4F1	E4F transcription factor 1 is involved in the regulation of cell growth, survival, and/or differentiation [3]. Knockout mice studies suggest that E4F1 is crucial during early embryonic cell cycles and functions in mitosis [4]. Relatively high expression in peripheral blood-CD4+ T cells, heart, lungs, liver, and thymus [5]
DNASEIL2	Deoxyribonuclease I- like 2, has strong endonuclease activity in the presence of certain cations, including CA2+ and Mg2+ [6]. Relatively high expression in pancreatic islets, liver, and bone marrow [5]
ECI1	Dodecenoyl-coenzyme A delta-isomerase encodes an isomerase that is involved in the mitochondrial beta-oxidation of unsaturated fatty acids [7]. It has relatively high expression in heart, lungs, liver, kidneys, thymus, and whole brain [5]
RNPS1	RNA-binding protein S1 is a serine-rich RNA binding protein involved in alternative splicing and regulation of physiological and developmental gene expression. It has been found in spliceosomes that trigger nonsense-mediated decay, which is thought to be involved in mRNA surveillance. RNPS1 is mainly expressed in hematologic cell lines [5]
ABCA3	An ATP-binding cassette family member that is homologous to the studied Caenorhabditis elegans protein ced7. Involved in programmed cell death and expressed during embryogenesis. ABCA3 is highly expressed in lung, brain, pancreas, skeletal muscle, and heart and is known to play an important role in the formation of surfactant [5]. Homozygous mutations in ABCA3 have been shown in a cohort of patient with severe neonatal respiratory distress and surfactant deficiency [8]
MIR3677	A short novel noncoding RNA involved in posttranscriptional regulation. Little known function [5]
MIR4717	A short novel noncoding RNA involved in posttranscriptional regulation. Little known function [5]
MIR940	A short novel noncoding RNA involved in posttranscriptional regulation. Little known function. Reported expression in renal cell carcinoma [9]