Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 12, 2013, Pages 3155-3160

  Ababneh, Farouq K ^a   Alswaid, Abdulrahman ^a   Youssef, Talaat ^a   Al Azzawi, Manaf ^a   Crosby, Andrew ^c   Albalwi, Mohammed A ^a,b,d  

^a KING ABDULLAH INTERNATIONAL MEDICAL RESEARCH CENTER   (Saudi Arabia)

^b KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

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

^d KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

Author keywords

7p22.3 deletion; ACGH; FAM20C; Raine syndrome; Wormian bones

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BONE DENSITY; BONE MALFORMATION; BONE RADIOGRAPHY; BRAIN CALCIFICATION; CASE REPORT; CHROMOSOME 7P; CHROMOSOME BAND; CHROMOSOME DELETION; CLINICAL EXAMINATION; COMPARATIVE GENOMIC HYBRIDIZATION; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL MALFORMATION; DISTAL PHALANX; FAM20C GENE; GENE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HYDROCEPHALUS; HYPOPLASIA; INFANT; INFANT NUTRITION; KARYOTYPE 46,XY; MALE; MEDICAL PROCEDURES; MUSCLE HYPOTONIA; NOSE SEPTUM; NUCLEAR MAGNETIC RESONANCE IMAGING; OSTEOSCLEROSIS; PRIORITY JOURNAL; PYRIFORM CORTEX; RAINE SYNDROME; SEIZURE; SHORT STATURE; SKULL MALFORMATION; SKULL SURGERY; THREE DIMENSIONAL IMAGING; TRACHEOSTOMY;

WORMIA;

7P22.3 DELETION; ACGH; FAM20C; RAINE SYNDROME; WORMIAN BONES;

ABNORMALITIES, MULTIPLE; BONE DISEASES, DEVELOPMENTAL; CLEFT PALATE; EXOPHTHALMOS; EXTRACELLULAR MATRIX PROTEINS; GENE DELETION; HUMANS; INFANT, NEWBORN; MALE; MICROCEPHALY; MUTATION; OSTEOSCLEROSIS;

EID: 84888020288     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36160     Document Type: Article

References (22)

1. Acosta AX, Peres LC, Chimelli LC, Pina-Neto JM. 2000. Raine dysplasia: A Brazilian case with a mild radiological involvement. Clin Dysmorph 9:99-101.
2. Al Gazali LI, Jehier K, Nazih B, Abtin F, Haas D, Sadagahatian R. 2003. Further delineation of Raine syndrome. Clin Dysmorphol 12:89-93.
3. Al Mane KA, Coates RK, McDonald P. 1996. Intracranial calcification in Raine syndrome. Pediatr Radiol 26:55-58.
4. Al Mane K, AlDayel F, McDonald P. 1998. Intracranial calcification in Raine syndrome: Radiological pathological correlation. Pediatr Radiol 28:820-823.
5. Chitayat D, Shannon P, Keating S, Toi A, Blaser S, Friedberg T, Superti-Furga A, Chong K, Unger S. 2007. Raine syndrome: A rare lethal osteosclerotic bone dysplasia. Prenatal diagnosis, autopsy, and neuropathological findings. Am J Med Genet 143A:3280-3285.
6. Fradin M, Stoetzel C, Muller J, Koob M, Christmann D, Debry C, Kohler M, Isnard M, Astruc D, Desprez P, Zorres C, Flori E, Dollfus H, Doray B. 2011. Osteosclerotic bone dysplasia in siblings with a Fam20C mutation. Clin Genet 80:177-183.
7. Gunes T, Kurtoglu S, Cetin N, Ozturk MA, Topaloqlu N. 2005. Raine syndrome associated with cytomegalovirus infection. Turk J Pediatr 47:89-91.
8. Kan AE, Kozlowski K. 1992. New distinct lethal osteosclerotic bone dysplasia (Raine syndrome). Am J Med Genet 43:860-864.
9. Kingston HM, Freeman JS, Hall CM. 1991. A new lethal sclerosing bone dysplasia. Skeletal Radiol 20:117-119.
10. Kochar GS, Choudhary A, Gadodia A, Gupta N, Simpson MA, Crosby AH, Kabra M. 2010. Raine syndrome: A clinical, radiographic and genetic investigation of a case from the Indian subcontinent. Clin Dysmorphol 19:153-156.
11. Hulskamp G, Wieczorek D, Rieder H, Louwen F, Hörnig-Franz I, Rickert CH, Horst J, Harms E, Rehder H. 2003. Raine syndrome: Report of a family with three affected sibs and further delineation of the syndrome. Clin Dysmorphol 12:153-160.
12. Ishikawa HO, Xu A, Ogura E, Manning G, Irvine KD. 2012. The Raine Syndrome Protein FAM20C Is a Golgi Kinase That Phosphorylates Bio-Mineralization Proteins. PLoS One 7:e42988.
13. Mahafza T, El Shanti H, Omari H. 2001. Raine syndrome: Report of a case with hand and foot anomalies. Clin Dysmorphol 10:227-229.
14. Koob M, Doray B, Fradin M, Astruc D, Dietemann JL. 2011. Raine syndrome: Expanding the radiological spectrum. Pediatr Radiol 41:389-393.
15. Patel PJ, Kolawole TM, al-Mofada S, Malabarey TM, Hulailah A. 1992. Osteopetrosis: Brain ultrasound and computed tomography findings. Eur J Pediatr 151:827-828.
16. Raine J, Winter RM, Davey A, Tucker SM. 1989. Unknown syndrome: Microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis. J Med Genet 26:786-788.
17. Rejjal A. 1998. Raine syndrome. Am J Med Genet 78:382-385.
18. Shalev SA, Shalev E, Reich D, Borochowitz ZU. 1999. Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): Further delineation. Am J Med Genet 86:274-277.
19. Simpson MA, Hsu R, Keir LS, Hao J, Sivapalan G, Ernst LM, Zackai EH, Al-Gazali LI, Hulskamp G, Kingston HM, Prescott TE, Ion A, Patton MA, Murday V, George A, Crosby AH. 2007. Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development. Am J Hum Genet 81:906-912.
20. Simpson MA, Scheuerle A, Hurst J, Patton MA, Stewart H, Crosby AH. 2009. Mutations in FAM20C also identified in non-lethal osteosclerotic bone dysplasia. Clin Genet 75:271-276.
21. Tagliabracci VS, Engle JL, Wen J, Wiley SE, Worby CA, Kinch, LN, Xiao J, Grishin NV, Dixon JE. 2012. Secreted kinase phosphorylates extracellular proteins that regulate biomineralization. Science 336:1150-1153.
22. Wang X, Wang S, Li C, Gao T, Liu Y, Rangiani A, Sun Y, Hao J, George A, Lu Y, Groppe J, Yuan B, Feng JQ, Qin C. 2012. Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice. PLoS Genet 8:e1002708.