Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Anastasio, Natascia; Ben‐Omran, Tawfeg; Teebi, Ahmad S.; Ha, Kevin C.H.; Lalonde, Emilie; Ali, Rehab; Al‐Mureikhi, Mariam; Kaloustian, Vazken M. Der; Liu, Junhui; Rosenblatt, David S.; Majewski, Jacek; Jerome-Majewska, Loydie A.

doi:10.1016/j.ajhg.2010.09.005

Cited by 54 publications

(56 citation statements)

References 24 publications

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“…deletion in our patient was surprising. The recent identification of homozygous mutations in the SCARF2 gene in inbred families with VDEGS [Anastasio et al, 2010] suggested unmasking of a recessive mutation of SCARF2, which is located within the 22q11.2 common deletion region. Subsequent sequencing of SCARF2 in our patient revealed indeed a maternally inherited splice site mutation in addition to the 22q11.2 microdeletion and hence absence of a functional SCARF2 gene.…”

Section: Discussionmentioning

confidence: 99%

“…SCARF2 contains putative epidermal growth factor-like domains in its extracellular domain, along with a number of positively charged residues in its intracellular domain, indicating that it may be involved in intracellular signaling. Scarf2 is expressed in mouse branchial or pharyngeal arches and mandibular maxillary and urogenital ridge tissues [Anastasio et al, 2010].…”

Section: Discussionmentioning

confidence: 99%

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Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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Van den Ende-Gupta syndrome (VDEGS) is a congenital condition characterized by craniofacial and skeletal manifestations, specifically blepharophimosis, malar and maxillary hypoplasia, distinctive nose, arachnocamptodactyly, and long slender bones of the hands and feet. To date, only 24 patients have been described. It is generally thought that the syndrome is transmitted by an autosomal recessive mode of inheritance, although evidence for genetic heterogeneity has recently been presented. We report on a girl followed from birth up to 3 years of life with a set of peculiar minor anomalies, arachnocamptodactyly of hands and feet, characteristic of VDEGS in association with a 22q11.12 deletion. Recently, the VDEGS gene was mapped to the DiGeorge syndrome region on 22q11.2, and homozygous mutations in the SCARF2 gene were identified. We now report the first patient with VDEGS due to compound heterozygosity for the common 22q11.2 microdeletion and a hemizygous SCARF2 splice site mutation.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

et al. 2010

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“…These defects in cilia are associated with a range of human diseases, such as primary ciliary dyskinesia, hydrocephalus, polycystic liver and kidney disease, and some forms of retinal degeneration (26). Using WES, mutations that cause ciliopathy diseases were found: Van Den Ende-Gupta, Sensenbrenner, Joubert, Bardet-Biedl syndromes, Leber congenital amaurosis, polycystic kidney disease, primary ciliary dyskinesia (21)(22)(23)(24)(27)(28)(29)(30)(31). Exome sequencing effectively confirmed that the nonsynonymous mutation chr22:19115386 C>T in the SCARF2 gene, which is expressed during development, is responsible for Van Den Ende-Gupta syndrome that affects multi-system (21).…”

Section: Discussionmentioning

confidence: 99%

“…Using WES, mutations that cause ciliopathy diseases were found: Van Den Ende-Gupta, Sensenbrenner, Joubert, Bardet-Biedl syndromes, Leber congenital amaurosis, polycystic kidney disease, primary ciliary dyskinesia (21)(22)(23)(24)(27)(28)(29)(30)(31). Exome sequencing effectively confirmed that the nonsynonymous mutation chr22:19115386 C>T in the SCARF2 gene, which is expressed during development, is responsible for Van Den Ende-Gupta syndrome that affects multi-system (21). Also there were studies where exome sequencing was applied to reveal genes causing Joubert syndrome -a neurological, ciliopathic disorder manifested by psychomotor retardation, hypotonia, and ataxia.…”

Section: Discussionmentioning

confidence: 99%

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Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

Rančelis

Kučinskas²

2013

AML

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A rare disease is any disease that affects a small percentage of the population. In the European Union a disease is defined as rare if it affects less than 1 in 2,000 people. Despite a small percentage of affected people by one disease, the total number of rare diseases is estimated to be around 7,000–8,000, thus, because of their large number they have an impact on many people and even 30 million of European Union citizens may be suffering from them. Research of rare diseases may help to explain their mechanism or to develop more advanced diagnostics. Classical strategies for studies of rare autosomal recessive diseases encounter with additional problems (multiple genetic variants, de novo mutations, extremely rare cases) that make these strategies not enough effective. Next generation whole-exome sequencing (WES) opened a new page in Mendelian disease gene discovery – enabling to study autosomal recessive diseases in a new way. During 3 years of WES usage many novel mutations of autosomal recessive disease genes were discovered.

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Insights into the ligand binding specificity of SREC‐II (scavenger receptor expressed by endothelial cells)

et al. 2021

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SREC-II (scavenger receptor expressed by endothelial cells-II) is a membrane protein encoded by the SCARF2 gene, with high homology to class F scavenger receptor SR-F1, but no known scavenging function. We produced the extracellular domain of SREC-II in a recombinant form and investigated its capacity to interact with common scavenger receptor ligands, including acetylated low density lipoprotein (AcLDL) and maleylated or acetylated BSA (MalBSA or AcBSA). Whereas no binding was observed for AcLDL, SREC-II ectodomain interacted strongly with MalBSA and bound with high affinity to AcBSA, a property shared with the SR-F1 ectodomain. SREC-II ectodomain also interacted with two SR-F1 specific ligands, complement C1q and calreticulin, with affinities in the 100 nM range. We proceeded to generate a stable CHO cell line overexpressing full-length SREC-II; binding of MalBSA to these cells was significantly increased compared to non-transfected CHO cells. In contrast, no increase in binding could be detected for C1q and calreticulin. We show for the first time that SREC-II has the capacity to interact with the common scavenger receptor ligand MalBSA. In addition, our data highlight similarities and differences in the ligand binding properties of SREC-II in soluble form and at the cell surface, and show that endogenous protein ligands of the ectodomain of SREC-II, such as C1q and calreticulin, are shared with the corresponding domain of SR-F1.

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Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Cited by 54 publications

References 24 publications

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases

Insights into the ligand binding specificity of SREC‐II (scavenger receptor expressed by endothelial cells)

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