4p16.3 Copy Number Variation

ORPHA: 96072 Microduplication syndrome

Disease definition: 4p16.3 microduplication syndrome is a rare genetic syndrome that results from the partial duplication of the short arm of chromosome 4. It has a highly variable phenotype, principally characterized by psychomotor and language delay, seizures and dysmorphic features such as high forehead with frontal bossing, hypertelorism, prominent glabella, long narrow palpebral fissures, low set ears and short neck. Eye abnormalities (glaucoma, irregular iris pigmentation, hyperopia) have also been reported.
World-wide prevalence: Unknown
Very frequent (99–80%) phenotypic features: No phenotypic features available.

HGNC	Gene Name	NCBI	Ensembl	UniProt
FAM53A	family with sequence similarity 53 member A	152877	ENSG00000174137	Q6NSI3
SLBP	stem-loop histone mRNA binding protein	7884	ENSG00000163950	Q14493
TMEM129	transmembrane protein 129, E3 ubiquitin ligase	92305	ENSG00000168936	A0AVI4
TACC3	transforming acidic coiled-coil containing protein 3	10460	ENSG00000013810	Q9Y6A5
FGFR3	fibroblast growth factor receptor 3	2261	ENSG00000068078	P22607
LETM1	leucine zipper and EF-hand containing transmembrane protein 1	3954	ENSG00000168924	O95202
NSD2	nuclear receptor binding SET domain protein 2	7468	ENSG00000109685	O96028
NELFA	negative elongation factor complex member A	7469	ENSG00000185049	Q9H3P2
NICOL1	NELL2 interacting cell ontogeny regulator 1	401115	ENSG00000243449	Q5BLP8
NAT8L	N-acetyltransferase 8 like	339983	ENSG00000185818	Q8N9F0
POLN	DNA polymerase nu	353497	ENSG00000130997	Q7Z5Q5