Further delineation of Raine syndrome

Jehier, K.; Nazih, B.; Abtin, F.; Haas, David; Sadagahatian, R.

doi:10.1097/00019605-200304000-00003

Cited by 30 publications

(27 citation statements)

References 8 publications

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“…Raine syndrome is a lethal bone dysplasia characterized by generalized osteosclerosis with periosteal new bone formation and distinctive facies [Al-Gazali et al, 2003c]. Four consanguineous families from the UAE with several affected children were evaluated [Al-Gazali et al, 2003c] (unpublished data) and molecular study in one of those families revealed a mutation in FAM20C gene (Table 6) [Simpson et al, 2007].…”

Section: Raine Syndromementioning

confidence: 99%

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Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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Section: Raine Syndromementioning

confidence: 99%

“…Four consanguineous families from the UAE with several affected children were evaluated [Al-Gazali et al, 2003c] (unpublished data) and molecular study in one of those families revealed a mutation in FAM20C gene (Table 6) [Simpson et al, 2007].…”

Section: Raine Syndromementioning

confidence: 99%

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Al‐Gazali

Ali

2010

Hum. Mutat.

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“…The first reported case of Raine syndrome was presented in 1989; a female neonate, born at term, who died at the age of 86 min (2). Since this original description an additional 16 cases have been described (3)(4)(5)(6)(7)(8)(9)(10)(11)(12). Radiographic studies have shown generalized increase in the density of all bones and marked increase in the ossification of the skull (13).…”

mentioning

confidence: 99%

Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia

et al. 2009

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Raine syndrome is an osteosclerotic bone dysplasia, which has proved to be lethal within the first few weeks of life in all the reported cases to date. We recently identified a chromosomal rearrangement and telomeric microdeletion in a patient with Raine syndrome and subsequently identified mutations in the FAM20C gene, located within the deleted region, in six additional Raine syndrome cases. The phenotype of Raine syndrome in the cases examined was remarkably consistent with generalized osteosclerosis of all bones, periosteal bone formation, characteristic facial phenotype and lethal within the first few weeks of life. In the current study, we have identified two unrelated individuals who presented at birth with a sclerosing bone dysplasia with features very similar to those in Raine syndrome but who survived infancy and are now aged 8 and 11 years, respectively. Mutations in FAM20C, consistent with autosomal recessive inheritance, were identified in both cases. In the first case, a homozygous non-synonymous mutation in exon 7 (1309G>A D437N) was identified, and in the second case, compound heterozygosity for non-synonymous mutations in exon 2 (731T>A I244N) and in exon 3 (796G>A G266R) was revealed. Raine syndrome has been previously considered to be a neonatal lethal condition. However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis.

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“…[1] The osteosclerosis is usually generalized, but occasionally may be focal involving only few bones. [2] Palate usually shows cleft, but may be higharched and narrow. The babies affected with this disorder show intracranial calcifications.…”

Section: Discussionmentioning

confidence: 99%