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

Clinical Genetics

Volumn 75, Issue 3, 2009, Pages 271-276

  Simpson, M A ^a   Scheuerle, A ^b   Hurst, J ^c   Patton, M A ^a   Stewart, C ^c   Crosby, Andrew H ^a  

^a ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^b Tesserae Genetics Texas   (United States)

^c CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

Bone dysplasia; FAM20C; Lethal; Mutation; Raine syndrome

Indexed keywords

ALANINE; GENE PRODUCT; GLYCINE; PROTEIN FAM20C; THREONINE; UNCLASSIFIED DRUG;

ALKALINE PHOSPHATASE BLOOD LEVEL; ARTICLE; BONE DYSPLASIA; BONE RADIOGRAPHY; BONE REMODELING; BRACHYCEPHALY; BRAIN VENTRICLE PERITONEUM SHUNT; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SURGERY; EXON; EXOPHTHALMOS; EYE MALFORMATION; FACE DYSMORPHIA; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HEARING AID; HEARING IMPAIRMENT; HUMAN; HYDROCEPHALUS; MALE; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NOSE MALFORMATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE; SEQUENCE ANALYSIS; SLEEP APNEA SYNDROME; TRACHEOSTOMY;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; BASE SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHILD; CHROMOSOMES, HUMAN, PAIR 7; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOSCLEROSIS; PEDIGREE; PROTEINS; SYNDROME;

EID: 60549093755     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2008.01118.x     Document Type: Article

References (15)

1. Superti-Furga A, Unger S. Nosology and classification of genetic skeletal disorders: 2006 revision. Am J Med Genet A 2007: 143: 1-18.
2. Raine J, Winter RM, Davey A, Tucker SM. Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 1989: 26: 786-788.
3. Kingston HM, Freeman JS, Hall CM. A new lethal sclerosing bone dysplasia. Skeletal Radiol 1991: 20: 117-119.
4. Simpson MA, Hsu R, Keir LS et al. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet 2007: 81: 906-912.
5. Kan AE, Kozlowski K. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 1992: 43: 860-864.
6. Patel PJ, Kolawole TM, al-Mofada S, Malabarey TM, Hulailah A. Osteopetrosis: Brain ultrasound and computed tomography findings. Eur J Pediatr 1992: 151: 827-828.
7. Al Mane KA, Coates RK, McDonald P. Intracranial calcification in Raine syndrome. Pediatr Radiol 1996: 26: 55-58.
8. Rejjal A. Raine syndrome. Am J Med Genet 1998: 78: 382-385.
9. Shalev SA, Shalev E, Reich D, Borochowitz ZU. Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation. Am J Med Genet 1999: 86: 274-277.
10. Mahafza T, El Shanti H, Omari H. Raine syndrome: Report of a case with hand and foot anomalies. Clin Dysmorphol 2001: 10: 227-229.
11. Al Gazali LI, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R. Further delineation of Raine syndrome. Clin Dysmorphol 2003: 12: 89-93.
12. Hulskamp G, Wieczorek D, Rieder H et al. Raine syndrome: Report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol 2003: 12: 153-160.
13. Acosta AX, Peres LC, Chimelli LC, Pina-Neto JM. Raine dysplasia: A Brazilian case with a mild radiological involvement. Clin Dysmorphol 2000: 9: 99-101.
14. Nalbant D, Youn H, Nalbant SI et al. FAM20: An evolutionarily conserved family of secreted proteins expressed in hematopoietic cells. BMC Genomics 2005: 6: 11.
15. Hao J, Narayanan K, Muni T, Ramachandran A, George A. Dentin Matrix protein 4 a novel secretory calcium-binding protein that modulates odontoblast differentiation. J Biol Chem 2007: 282: 15357-15365.