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

  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},
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… 
Disorders of sex development in Wolf–Hirschhorn syndrome: a genotype–phenotype correlation and MSX1 as candidate gene
It is hypothesized that the deletion of MSX1 in the authors' patient may deregulate the androgen synthesis and might be indirectly responsible for the hypospadias phenotype by contributing to the spatiotemporal regulation of GnRH transcription during development.
The Many Faces of Xenopus: Xenopus laevis as a Model System to Study Wolf–Hirschhorn Syndrome
The benefits of using X. laevis as a model system for studying human genetic disorders of development, with a focus on Wolf–Hirschhorn syndrome are highlighted.
Cytogenomic Integrative Network Analysis of the Critical Region Associated with Wolf-Hirschhorn Syndrome
The results suggest that specific cell signaling pathways including dopamine receptor, NAD+ nucleosidase activity, and fibroblast growth factor-activated receptor activity are associated with the diverse pathological WHS phenotypes and their symptoms.
Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature
Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short
A novel risk score model for stomach adenocarcinoma based on the expression levels of 10 genes
The 10-gene risk score model established in the present study was regarded as credible and may help identify patients with a high risk of STAD, and the proposed prognostic mRNAs may be useful in elucidating STAD pathogenesis.


LETM1, a gene deleted in Wolf-Hirschhorn syndrome, encodes an evolutionarily conserved mitochondrial protein.
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.
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.
It is proposed that haploinsufficiency of LETM1 may contribute to the neuromuscular features of WHS patients.
First known microdeletion within the Wolf-Hirschhorn syndrome critical region refines genotype-phenotype correlation.
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.
Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2.
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
Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice
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.
Genotype–phenotype correlation in 21 patients with Wolf–Hirschhorn syndrome using high resolution array comparative genome hybridisation (CGH)
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
Given its expression pattern and its involvement in bone and cartilage formation during embryonic development, the FGFRL1 gene represents a plausible candidate gene for part of the facial characteristics of Wolf–Hirshhorn syndrome in 4p16.3 deletion patients.
Hippocampal and visuospatial learning defects in mice with a deletion of frizzled 9, a gene in the Williams syndrome deletion interval
It is concluded that frizzled 9 is a critical determinant of hippocampal development and is very likely to be a contributing factor to the neurodevelopmental and behavioral phenotype of patients with Williams syndrome.
LETM1, deleted in Wolf-Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
It is shown that human LETM1 is located in the inner membrane, exposed to the matrix and oligomerized in higher molecular weight complexes of unknown composition, and caused 'necrosis-like' death, without activation of caspases and not inhibited by overexpression of Bcl-2.