Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

Table 1 List of genes and their transcripts included in the chr16q24 deletion carried by the proband (UCSC Genomic Institute. UCSC Genomic Institute (University of California Santa Cruz)

Gene	Transcript	Chr	Tx-Start [hg19]	Tx-End [hg19]	Exon Count	Strand	Function	Disease
C16orf95	NM_001195124	16	87,336,420	87,350,998	7	−	Unknown	Unknown
FBXO31	NM_024735	16	87,360,592	87,417,382	9	−	Degradation via Skp1-Cul1- Fbox protein complex; cell cycle regulator [33]	Intellectual disability autosomal recessive
MAP1LC3B	NM_022818	16	87,425,941	87,438,380	4	+	Autophagy pathway [33]	Unknown
ZCCHC14	NM_015144	16	87,439,853	87,526,630	13	−	Regulates tumor progression [34]	Unknown
JPH3	NM_001271604	16	87,636,113	87,638,254	2	+	cross talk between cell surface and intracellular ion channels by junctional complexes (OMIM* 60,526)	Huntington’s Disease Like 2
KLHDC4	NM_017566	16	87,741,417	87,799,592	12	−	Unknown	Unknown

ISSN: 1750-1172