C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development

@article{Endele2011C4ORF48AG,
  title={C4ORF48, a gene from the Wolf-Hirschhorn syndrome critical region, encodes a putative neuropeptide and is expressed during neocortex and cerebellar development},
  author={Sabine U Endele and Claudia Nelkenbrecher and Annegret B{\"o}rdlein and Stefanie Schlickum and Andreas Winterpacht},
  journal={neurogenetics},
  year={2011},
  volume={12},
  pages={155-163}
}
In order to identify novel genes involved in mental retardation/intellectual disability, we focused on a microdeletion reported in a patient with a mild form of Wolf-Hirschhorn syndrome. This patient presented with attention-deficit hyperactivity disorder, some learning and fine motor deficits as well as facial abnormalities. The deleted region included three genes. Here, we report the first characterization of one of these genes, C4ORF48. C4ORF48 encodes a short (139 aa) evolutionarily… 
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References

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LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
TLDR
Information about a possible function for LETM1 is presented and it is suggested that at least some (neuromuscular) features of WHS may be caused by mitochondrial dysfunction.
A transcript map of the newly defined 165 kb Wolf-Hirschhorn syndrome critical region.
TLDR
This work uses a series of landmark cosmids to characterise a collection of WHS patient derived cell lines and provides the starting point to understand how multiple genes or other mechanisms can contribute to the complex phenotype associated with the Wolf-Hirschhorn syndrome.
LETM1, a novel gene encoding a putative EF-hand Ca(2+)-binding protein, flanks the Wolf-Hirschhorn syndrome (WHS) critical region and is deleted in most WHS patients.
TLDR
It is proposed that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients.
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TLDR
This report reports on the first known patient with a small de novo interstitial deletion restricted to the WHSCR who presented with a partial WHS phenotype consisting only of low body weight for height, speech delay, and minor facial anomalies; shortness of stature, microcephaly, seizures and mental retardation were absent.
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In an attempt to define the distinctive Wolf-Hirschhorn syndrome (WHS) phenotype, and to map its specific clinical manifestations, a total of eight patients carrying a 4p16.3 microdeletion were
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TLDR
Evidence is provided that mice with haploinsufficiency for Cyln2 have features reminiscent of Williams syndrome, including mild growth deficiency, brain abnormalities, hippocampal dysfunction and particular deficits in motor coordination, using a gene-targeting approach.
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TLDR
The smallest terminal deletion ever reported in a patient with mild WHS stigmata is observed, and the genes causing microcephaly, intrauterine and postnatal growth retardation are positions between 0.3 and 1.4 Mb and further refines the regions causing congenital heart disease, cleft lip and/or palate, oligodontia, and hypospadias.
Wolf–Hirschhorn syndrome facial dysmorphic features in a patient with a terminal 4p16.3 deletion telomeric to the WHSCR and WHSCR 2 regions
TLDR
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TLDR
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LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
TLDR
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