4p16.3 copy number variation (WP5365)

Homo sapiens

The Wolf-Hirschhorn syndrome is a rare genetic disorder caused by a microdeletion in the chromosomal region 4p16.3. Typical symptoms are a distinct facial morphology, intellectual disability, psychiatric disorders, seizures, and heart defects. The chromosomal position chr4:1,552,030-2,091,303 (GCRh37) was taken from Kirov et al. 2014 and literature cited there (10.1016/j.biopsych.2013.07.022).

Authors

Ewoud , Friederike Ehrhart , Kristina Hanspers , Eric Weitz , and Egon Willighagen

Activity

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Cited In

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Organisms

Homo sapiens

Communities

Annotations

Pathway Ontology

disease pathway

Disease Ontology

disease of mental health

Participants

Label Type Compact URI Comment
N-acetyl-L-aspartate Metabolite chebi:16953
Ca2+ Metabolite chebi:29108
Acetyl-CoA Metabolite chebi:57288
L-aspartate Metabolite chebi:29991
proton Metabolite chebi:24636
K+ Metabolite chebi:29103
Methamphetamine Metabolite chebi:6809
Inositol 1,4,5-trisphosphate Metabolite chebi:16595
SCARNA22 GeneProduct ensembl:ENSG00000249784
NELFA GeneProduct ensembl:ENSG00000185049 WHSC2
CKAP5 GeneProduct ensembl:ENSG00000175216
H3F3A GeneProduct ncbigene:3020
NELFCD GeneProduct ensembl:ENSG00000101158
NELFE GeneProduct ensembl:ENSG00000204356
FGF2 GeneProduct ensembl:ENSG00000138685
FAM53A GeneProduct ensembl:ENSG00000174137
CBL GeneProduct ensembl:ENSG00000110395
MAPK3 GeneProduct ensembl:ENSG00000102882
ERI1 GeneProduct ensembl:ENSG00000104626
TACC3 GeneProduct ensembl:ENSG00000013810
CLTCL1 GeneProduct ensembl:ENSG00000070371
NSD2 GeneProduct ensembl:ENSG00000109685
NAT8L GeneProduct ensembl:ENSG00000185818
SLBP GeneProduct ensembl:ENSG00000163950
NELFB GeneProduct ensembl:ENSG00000188986
TMEM129 GeneProduct ensembl:ENSG00000168936
MIR943 GeneProduct ensembl:ENSG00000284587
C4orf48 GeneProduct ensembl:ENSG00000243449
POLN GeneProduct ensembl:ENSG00000130997
FGFR3 GeneProduct ensembl:ENSG00000068078
UBE2J2 GeneProduct ensembl:ENSG00000160087
BCS1L GeneProduct ensembl:ENSG00000074582
MAPK1 GeneProduct ensembl:ENSG00000100030
LETM1 GeneProduct ensembl:ENSG00000168924
FRS2 GeneProduct ensembl:ENSG00000166225
PLCG1 GeneProduct ensembl:ENSG00000124181
GRB2 GeneProduct ensembl:ENSG00000177885
SOS1 GeneProduct ensembl:ENSG00000115904
PIK3R1 GeneProduct ensembl:ENSG00000145675
GAB1 GeneProduct ensembl:ENSG00000109458
NELFA GeneProduct ensembl:ENSG00000185049
Core histone H2A/H2B/H3/H4 Protein pfam:PF00125
Linker histone H1 and H5 family Protein pfam:PF00538

References

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  13. C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development. Endele S, Nelkenbrecher C, Bördlein A, Schlickum S, Winterpacht A. Neurogenetics. 2011 May;12(2):155–63. PubMed Europe PMC Scholia
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  20. NCLX protein, but not LETM1, mediates mitochondrial Ca2+ extrusion, thereby limiting Ca2+-induced NAD(P)H production and modulating matrix redox state. De Marchi U, Santo-Domingo J, Castelbou C, Sekler I, Wiederkehr A, Demaurex N. J Biol Chem. 2014 Jul 18;289(29):20377–85. PubMed Europe PMC Scholia
  21. How a homolog of high-fidelity replicases conducts mutagenic DNA synthesis. Lee YS, Gao Y, Yang W. Nat Struct Mol Biol. 2015 Apr;22(4):298–303. PubMed Europe PMC Scholia
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  23. PINK1-mediated phosphorylation of LETM1 regulates mitochondrial calcium transport and protects neurons against mitochondrial stress. Huang E, Qu D, Huang T, Rizzi N, Boonying W, Krolak D, et al. Nat Commun. 2017 Nov 9;8(1):1399. PubMed Europe PMC Scholia
  24. Depletion of Nsd2-mediated histone H3K36 methylation impairs adipose tissue development and function. Zhuang L, Jang Y, Park YK, Lee JE, Jain S, Froimchuk E, et al. Nat Commun. 2018 May 4;9(1):1796. PubMed Europe PMC Scholia
  25. Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype. Zanoni P, Steindl K, Sengupta D, Joset P, Bahr A, Sticht H, et al. Genet Med. 2021 Aug;23(8):1474–83. PubMed Europe PMC Scholia
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  27. TMBIM5 is the Ca2+ /H+ antiporter of mammalian mitochondria. Austin S, Mekis R, Mohammed SEM, Scalise M, Wang WA, Galluccio M, et al. EMBO Rep. 2022 Dec 6;23(12):e54978. PubMed Europe PMC Scholia