Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome

Kolanczyk, Mateusz; Krawitz, Peter; Hecht, Jochen; Hupalowska, Anna; Miączyńska, Marta; Marschner, Katrin; Schlack, Claire; Emmerich, Denise; Kobus, Karolina; Kornak, Uwe; Robinson, Peter N.; Plecko, Barbara; Grangl, Gernot; Uhrig, Sabine; Mundlos, Stefan; Horn, Denise

doi:10.1038/ejhg.2014.109

Cited by 52 publications

(47 citation statements)

References 21 publications

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“…Here, Bartuzi and colleagues linked the coiled-coil domain-containing protein 22 (CCDC22) to plasma LDL cholesterol clearance. Mutations in CCDC22 cause X-linked intellectual disability (XLID) syndrome [20,21]. XLID syndrome is characterized by developmental defects, which includes intellectual disability, cerebellar malformations, cardiac defects and limb abnormalities, but this study reports for the first time that these patients also suffer from hypercholesterolemia.…”

Section: Low-density Lipoprotein Receptor (Ldlr)mentioning

confidence: 99%

News on the molecular regulation and function of hepatic low-density lipoprotein receptor and LDLR-related protein 1

Sluis

Wijers

Herz

2017

Current Opinion in Lipidology

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Purpose of review Clearing of atherogenic lipoprotein particles by the liver requires hepatic LDLR and LRP1. This review highlights recent studies that have expanded out understanding of the molecular regulation and metabolic functions of LDLR and LRP1 in the liver. Recent findings Various proteins orchestrate the intracellular trafficking of LDLR and LRP1. After internalization, the receptors are redirected via recycling endosomes to the cell surface. Several new endocytic proteins that facilitate the endosomal trafficking of LDLR and consequently the clearance of circulating LDL cholesterol have recently been reported. Mutations in some of these proteins cause hypercholesterolemia in human. In addition, LRP1 controls cellular cholesterol efflux by modulating the expression of ABCA1, and ABCG1, and hepatic LRP1 protects against diet-induced hepatic insulin resistance and steatosis through the regulation of insulin receptor trafficking. Summary LDLR and LRP1 have prominent roles in cellular and organismal cholesterol homeostasis. Their functioning, including their trafficking in the cell, is controlled by numerous proteins. Comprehensive studies into the molecular regulation of LDLR and LRP1 trafficking have advanced our fundamental understanding of cholesterol homeostasis, and these insights may lead to novel therapeutic strategies for atherosclerosis, hyperlipidemia and insulin resistance in the future.

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Section: Low-density Lipoprotein Receptor (Ldlr)mentioning

confidence: 99%

News on the molecular regulation and function of hepatic low-density lipoprotein receptor and LDLR-related protein 1

Sluis

Wijers

Herz

2017

Current Opinion in Lipidology

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“…Few genes have been implicated in rare cases of DWM, including genomic imbalances that are part of a congenital syndrome and rare single gene disorders [5–8]. FOXC1 -related DWM is associated with multiple congenital anomalies, especially eye malformations consistent with Axenfeld–Rieger syndrome [6].…”

Section: Specific Malformations With Known Genetic Causesmentioning

confidence: 99%

“…Congenital anomalies associated with FOXC1 -related DWM in severely affected patients overlap with Ritscher–Schinzel, or 3C (cranio-cerebello-cardiac) syndrome. Recently, mutations in CCDC22 were found in X-linked cases of 3C syndrome, suggesting that CCDC22 mutations may be a new cause of DWM [8]. Though these patients were noted to have DWM, limited neuroimaging data were reported to substantiate this diagnosis [8].…”

Section: Specific Malformations With Known Genetic Causesmentioning

confidence: 99%

“…Recently, mutations in CCDC22 were found in X-linked cases of 3C syndrome, suggesting that CCDC22 mutations may be a new cause of DWM [8]. Though these patients were noted to have DWM, limited neuroimaging data were reported to substantiate this diagnosis [8]. ZIC1/4 -related DWM is also associated with multiple congenital anomalies, including dysmorphic facial features and abnormal development of the eyelids.…”

Section: Specific Malformations With Known Genetic Causesmentioning

confidence: 99%

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The genetics of cerebellar malformations

Aldinger¹,

Doherty

2016

Seminars in Fetal and Neonatal Medicine

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SUMMARY The cerebellum has long been recognized for its role in motor co-ordination, but it is also increasingly appreciated for its role in complex cognitive behavior. Historically, the cerebellum has been overwhelmingly understudied compared to the neocortex in both humans and model organisms. However, this tide is changing as advances in neuroimaging, neuropathology, and neurogenetics have led to clinical classification and gene identification for numerous developmental disorders that impact cerebellar structure and function associated with significant overall neurodevelopmental dysfunction. Given the broad range in prognosis and associated medical and neurodevelopmental concerns accompanying cerebellar malformations, a working knowledge of these disorders and their causes is critical for obstetricians, perinatologists, and neonatologists. Here we present an update on the genetic causes for cerebellar malformations that can be recognized by neuroimaging and clinical characteristics during the prenatal and postnatal periods.

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“…2,3 The clinical presentation includes central nervous system involvement like Dandy-Walker malformation, enlarged cisterna magna, hydrocephalus. Major cardiac anomalies such as ventricular septal defect, atrial septal defect, tetralogy of Fallot, double-outlet right ventricle, hypoplastic left heart, aortic stenosis, pulmonary stenosis is seen.…”

Section: Discussionmentioning

confidence: 99%