Raine syndrome

Rejjal, Abdellatif

doi:10.1002/(sici)1096-8628(19980724)78:4<382::aid-ajmg17>3.0.co;2-e

Cited by 30 publications

(23 citation statements)

References 5 publications

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“…Among the 22 cases of Raine syndrome reported in the literature, (14,15,(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28) only the two most recently described cases survived after the neonatal period (28). The boys aged 8 and 11 years, respectively, at the time of the report, presented severe mental retardation in striking contrast with the two sisters reported herein, who have normal psychomotor development.…”

Section: Discussionmentioning

confidence: 73%

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

et al. 2011

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Raine syndrome is an autosomal recessive disorder caused by mutations in the FAM20C gene. FAM20C codes for the human homolog of DMP4, a dentin matrix protein highly expressed in odontoblasts and moderately in bone. DMP4 is probably playing a role in the mineralization process. Since the first case reported in 1989 by Raine et al. 21 cases have been published delineating a phenotype which associates dysmorphic features, cerebral calcifications, choanal atresia or stenosis and thoracic/pulmonary hypoplasia. Kan and Kozlowski suggested the name of Raine syndrome to describe this new lethal osteosclerotic bone dysplasia. All the cases described were lethal during the neonatal period except for the last two reported patients aged 8 and 11 years who presented severe mental retardation. Here we describe two sisters, with an attenuated phenotype of Raine syndrome, who present an unexpectedly normal psychomotor development at ages 4 and 1, respectively. Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype. This case report also prompted us to revisit the FAM20 gene classification and allowed us to highlight the ancestral status of Fam20C.

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Section: Discussionmentioning

confidence: 73%

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

et al. 2011

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“…Another hitherto unreported feature is cerebellar hypoplasia and pachygyria that we observed. We reviewed the literature and tabulated the features of Raine syndrome based on 15 papers (Table I) [Raine et al, 1989;Al Mane et al, 1996;Rejjal et al, 1998;Shalev et al, 1999;Acosta et al, 2000;Rickert et al, 2002;Hulskamp et al, 2003;Al-Gazali et al, 2003;Gunes et al, 2005;Chitayat et al, 2007;Kochar et al, 2010Gaigi et al, 2011Koob et al, 2011;Fardin et a, 2011;Ababneh et al, 2013].…”

Section: Discussionmentioning

confidence: 99%

“…Most of the cases of Raine syndrome were reported from the Middle East. Three siblings from consanguineous parents were reported from Saudi Arabia [Al Mane et al, 1996;Patel et al, 1992Rejjal 1998], and a fourth patient also from consanguineous marriage was reported by [Ababneh FK et al 2013]. Shalev et al [1999] reported a newborn girl from consanguineous Palestinian parents from Palestine, and Al-Gazali et al [2003] reported a male infant from unrelated Egyptian parents.…”

Section: Discussionmentioning

confidence: 99%

Report of a case of Raine syndrome and literature review

Seidahmed

Alazami

Abdelbasit

et al. 2015

American J of Med Genetics Pt A

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We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification. New features in our patient are cerebellar hypoplasia and pachygyria. We review the literature and conclude that the triad of hypoplastic nose, exophthalmos and generalized osteosclerosis and/or intracranial calcification is consistent in all molecularly confirmed cases.

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“…Human genetic diseases can identify proteins that modulate biomineralization. Raine syndrome (lethal osteosclerotic bone dysplasia) is associated with increased ossification resulting in skeletal malformation [1], [2], [3]. Raine syndrome is caused by mutations in FAM20C [4], [5], [6], which has been reported to encode a secreted component of bone and teeth [7], [8].…”

Section: Introductionmentioning

confidence: 99%

The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins

et al. 2012

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Raine syndrome is caused by mutations in FAM20C, which had been reported to encode a secreted component of bone and teeth. We found that FAM20C encodes a Golgi-localized protein kinase, distantly related to the Golgi-localized kinase Four-jointed. Drosophila also encode a Golgi-localized protein kinase closely related to FAM20C. We show that FAM20C can phosphorylate secreted phosphoproteins, including both Casein and members of the SIBLING protein family, which modulate biomineralization, and we find that FAM20C phosphorylates a biologically active peptide at amino acids essential for inhibition of biomineralization. We also identify autophosphorylation of FAM20C, and characterize parameters of FAM20C’s kinase activity, including its Km, pH and cation dependence, and substrate specificity. The biochemical properties of FAM20C match those of an enzymatic activity known as Golgi casein kinase. Introduction of point mutations identified in Raine syndrome patients into recombinant FAM20C impairs its normal localization and kinase activity. Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome.

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Raine syndrome

Cited by 30 publications

References 5 publications

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

Report of a case of Raine syndrome and literature review

The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins

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