Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

Papoulidis, Ioannis; Paspaliaris, Vassilis; Siomou, Elisavet; Orru, Sandro; Murru, Roberta; Sifakis, Stavros; Nikolaidis, Petros; Garas, Antonios; Sotiriou, Sotirios; Thomaidis, Loretta; Manolakos, Emmanouil

doi:10.1186/s13039-015-0175-y

Molecular Cytogenetics

Table 1 OMIM listed genes included in the 11q14.2-11q22.1 region

From: Interstitial deletion at 11q14.2-11q22.1 may cause severe learning difficulties, mental retardation and mild heart defects in 13-year old male

Gene	OMIM	Start	End	Cytogenetic region	Description	Protein function
PICALM	603025	85668485	58750108	11q14.2	Phosphatidylinositol binding clathrin assembly protein	Involved in cellular trafficking, regulation of endocytosis, and clathrin-mediated vesicle formation
EED	605984	85955815	85989781	11q14.2	Embryonic ectoderm development	Mediates repression of gene activity through histone deacetylation
ME3	604626	86152150	86383678	11q14.2	Malic enzyme 3, NADP(+)-dependent, mitochrondrial	Catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor
FZD4	604579	86656721	86666433	11q14.2	Frizzled homolog 4 (Drosophila)	Receptor for Wnt proteins
RAB38	606281	87846431	87908599	11q14.2	RAB38, member RAS oncogene family	May be involved in melanosomal transport and docking
CTSC	602365	88026760	88070941	11q14.2	Cathepsin C	Lysosomal protease capable if removing dipeptides from the amino terminus of protein substrates
GRM5	604102	88237744	88796816	11q14.2	Glutamate receptor, metabotropic 5	Transduce signals from extra cellular transmitters to the inside of the cell by activating G proteins
TYR	606933	88911040	89028927	11q14.3	Tyrosinase (oculocutaneous albinismIA)	Conversion of tyrosine to melanin
NOX4	605261	89057521	89231363	11q14.3	NAPDH pxidase 4	may function as catalytic component of an endothelial NAPDH oxidase/may fulfill the function of oxygen sensor in the kidney
FOLH1B	609020	89392465	89431886	11q14.3	Folate hydrolase 1B	hydrolyzes beta-citrylglutamate/ found in the CNS during pre-perinatal periods of development in the testis in adult males
TRIM49	606124	89530823	89541743	11q14.3	Tripartite motif containing 49	Protein-protein interaction. Expressed mostly in testis
NAAIAD2	611636	89867818	89925779	11q14.3	N-acetylated alpha-linked acidic dipeptidase 2	NAALADase activity. Inactivate the peptide neurotransmitter N-acetylaspartylglutamate
CHORDC1	604353	89933597	89956532	11q14.3	Cysteine and histidine-rich domain (CHORD) containing 1	Function of the wildtype gene in nematode development
FAT3	612483	92085262	92629636	11q14.3	FAT tumor suppressor homolog 3 (Drosophila)	Cell adhesion
MTNR1B	600804	92702789	92715948	11q14.3	Melatonun receptor 1B	Receptor for malatonin, proton-coupled receptors
C11orf75	609477	93211638	93276546	11q21	Chromosome 1 open reading frame 75
TAF1D	612823	93469095	93474703	11q21	TATA box binding protein	Component of the transcription factor SL1/TIF-IB complex. Downregulation induced apoptotic cell death
MED17	603810	93517405	93546496	11q21	Mediator complex subunit 17	Mammalian mediator of transcriptional regulation
PANX1	608420	93862094	93915139	11q21	Pannexin	Structural component of the gap junctions and the hemichannels
GPR83	605569	94110477	94134585	11q21	G protein-coupled receptor 83	Orphan receptor
MRE11A	600814	94150466	94227040	11q21	MRE11 meiotic recombination 11 homolog A	Double-strand break repair, DNA recombination, maintenance of telomere integrity and meiosis
FUT4	104230	94277017	94283064	11q21	Fucosyltransferase 4 (alpha (1,3)) myeloid-specific	Biosynthesis of lewis antigene
PIWIL4	610315	94300474	94354587	11q21	Piwi-like 4 (Drosophila)	Development and maintenance of germline stem cells
KDM4D	609766	94706845	94732678	11q21	Lysine (K)-specific demethylase 4D	Histone coding
SRSF8	603229	94800056	94804388	11q21	Serine/arginine-rich splicing factor 8	Involved in pre-mrna alternative splicing
SESN3	607768	94906113	94964246	11q21	Sestrin 3	Normal regulation of blood glucose, insulin resistance
CEP57	607951	95523642	95565854	11q21	Centrosomal protein 57 kda	Required for microtubule attachment to centrosomes
MTMR2	603557	95566044	95657371	11q21	Myotubularin related protein 2	Tyrosine phosphatase
MAML2	607537	95711440	96076344	11q21	Mastermind-like 2 (Drosphila)	Transcriptional coactivator for NOTCH proteins
JRKL	603211	96123158	96126727	11q21	Jerky homolog-like (mouse)	Not yet defined, probably nuclear regulatory protein

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ISSN: 1755-8166

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