A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2

Journal of Bone and Mineral Research

Volumn 29, Issue 4, 2014, Pages 992-998

  Isojima, Tsuyoshi ^a   Doi, Koichiro ^b   Mitsui, Jun ^a   Oda, Yoichiro ^c   Tokuhiro, Etsuro ^d   Yasoda, Akihiro ^e   Yorifuji, Tohru ^f   Horikawa, Reiko ^g   Yoshimura, Jun ^b   Ishiura, Hiroyuki ^a   Morishita, Shinichi ^b   Tsuji, Shoji ^a   Kitanaka, Sachiko ^a  

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c OHTA NISHINOUCHI HOSPITAL   (Japan)

^d Odawara City Hospital   (Japan)

^e KYOTO UNIVERSITY   (Japan)

^f OSAKA CITY GENERAL HOSPITAL   (Japan)

^g NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

FAM111A; HYPOMAGNESEMIA; KENNY CAFFEY SYNDROME; PARATHYROID RELATED DISORDERS

Indexed keywords

ALFACALCIDOL; MAGNESIUM OXIDE; MAGNESIUM SULFATE; FAM111A PROTEIN, HUMAN; MESSENGER RNA; PRIMER DNA; VIRUS RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CASE REPORT; CHILD; COMPUTER ASSISTED TOMOGRAPHY; EXOME; EYE MALFORMATION; FAMILY; FEMALE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC DISORDER; HETEROZYGOSITY; HUMAN; HYPOMAGNESEMIA; HYPOPARATHYROIDISM; JAPANESE; KENNY CAFFEY SYNDROME TYPE 2; LIVER DYSFUNCTION; MACROCEPHALY; MALE; MISSENSE MUTATION; RECURRENT DISEASE; SCHOOL CHILD; SHORT STATURE; YOUNG ADULT; CAFFEY DISEASE; DWARFISM; GENETICS; HYPOCALCEMIA; MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE; POLYMERASE CHAIN REACTION;

ADOLESCENT; ADULT; BASE SEQUENCE; CHILD; DNA PRIMERS; DWARFISM; EXOME; FEMALE; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPOCALCEMIA; MALE; MUTATION; PEDIGREE; POLYMERASE CHAIN REACTION; RECEPTORS, VIRUS; RNA, MESSENGER; YOUNG ADULT;

EID: 84897842236     PISSN: 08840431     EISSN: 15234681     Source Type: Journal    
DOI: 10.1002/jbmr.2091     Document Type: Article

References (27)

1. Kenny FM, Linarelli L., Dwarfism and cortical thickening of tubular bones. Transient hypocalcemia in a mother and son. Am J Dis Child. 1966; 111 (2): 201-7.
2. Caffey J., Congenital stenosis of medullary spaces in tubular bones and calvaria in two proportionate dwarfs-mother and son; coupled with transitory hypocalcemic tetany. Am J Roentgenol Radium Ther Nucl Med. 1967; 100 (1): 1-11.
3. Fanconi S, Fischer JA, Wieland P, et al. Kenny syndrome: evidence for idiopathic hypoparathyroidism in two patients and for abnormal parathyroid hormone in one. J Pediatr. 1986; 109 (3): 469-75.
4. Lee WK, Vargas A, Barnes J, Root AW., The Kenny-Caffey syndrome: growth retardation and hypocalcemia in a young boy. Am J Med Genet. 1983; 14 (4): 773-82.
5. Franceschini P, Testa A, Bogetti G, et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. Am J Med Genet. 1992; 42 (1): 112-6.
6. Sabry MA, Zaki M, Abul Hassan SJ, et al. Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster. J Med Genet. 1998; 35 (1): 31-6.
7. Sabry MA, Farag TI, Shaltout AA, et al. Kenny-Caffey syndrome: an Arab variant ? Clin Genet. 1999; 55 (1): 44-9.
8. Parvari R, Hershkovitz E, Grossman N, et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet. 2002; 32 (3): 448-52.
9. Tadaki H, Tokuhiro E, Shiga K, Kikuchi N, Mukai N, Fujieda K., A case of a 2-year-old girl with Kenny-Caffey Syndrome Type 2. Clin Pediatr Endocrinol. 2005; 14 (2 Suppl): 22.
10. Oda Y, Ono R, Hiwatari M, Iwasaki H, Namai Y, Iimori Y., A case report: three-year-old boy of Kenny-Caffey Syndrome Type 2. Clin Pediatr Endocrinol. 2000; 9 (2): 140.
11. Yorifuji T, Muroi J, Uematsu A., Kenny-Caffey syndrome without the CATCH 22 deletion. J Med Genet. 1998; 35 (12): 1054.
12. Izumi Y, Tanae A, Kuratsuji T, et al. A case of 12-year-old boy with Kenny syndrome associated with hypomagnesemia and humoral immunodeficiency [in Japanese]. Shoninaika. 1987; 19 (10): 1503-2.
13. Unger S, Gõrna MW, Le Béchec A, et al. FAM111A mutations result in hypoparathyroidism and impaired skeletal development. Am J Hum Genet. 2013 May 14. [Epub ahead of print].
14. Li H, Durbin R., Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009; 25 (14): 1754-60.
15. Li H, Handsaker B, Wysoker A, et al. The sequence alignment/map format and SAMtools. Bioinformatics. 2009; 25 (16): 2078-9.
16. Kong A, Frigge ML, Masson G, et al. Rate of de novo mutations and the importance of father's age to disease risk. Nature. 2012; 488 (7412): 471-5.
17. Fine DA, Rozenblatt-Rosen O, Padi M, et al. Identification of FAM111A as an SV40 host range restriction and adenovirus helper factor. PLoS Pathog. 2012; 8 (10): e1002949.
18. Akamatsu S, Takata R, Haiman CA, et al. Common variants at 11q12, 10q26 and 3p11.2 are associated with prostate cancer susceptibility in Japanese. Nat Genet. 2012; 44 (4): 426-9, S421.
19. Shiang R, Thompson LM, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell. 1994; 78 (2): 335-42.
20. Weinstein LS, Shenker A, Gejman PV, Merino MJ, Friedman E, Spiegel AM., Activating mutations of the stimulatory G protein in the McCune-Albright syndrome. N Engl J Med. 1991; 325 (24): 1688-95.
21. Gensure RC, Mäkitie O, Barclay C, Chan C, Depalma SR, Bastepe M, Abuzahra H, Couper R, Mundlos S, Sillence D, Ala Kokko L, Seidman JG, Cole WG, Jüppner H., A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders. J Clin Invest. 2005; 115 (5): 1250-7.
22. Courtens W, Wuyts W, Poot M, Szuhai K, Wauters J, Reyniers E, Eleveld M, Diaz G, Nöthen MM, Parvari R., Hypoparathyroidism-retardation-dysmorphism syndrome in a girl: A new variant not caused by a TBCE mutation - clinical report and review. Am J Med Genet A. 2006; 140 (6): 611-7.
23. Shoback D, Clinical practice., Hypoparathyroidism. N Engl J Med. 2008; 359 (4): 391-403.
24. Zajac JD, Danks JA., The development of the parathyroid gland: from fish to human. Curr Opin Nephrol Hypertens. 2008; 17 (4): 353-6.
25. Boynton JR, Pheasant TR, Johnson BL, Levin DB, Streeten BW., Ocular findings in Kenny's syndrome. Arch Ophthalmol. 1979; 97 (5): 896-00.
26. Parvari R, Diaz GA, Hershkovitz E., Parathyroid development and the role of tubulin chaperone E. Horm Res. 2007; 67 (1): 12-21.
27. Wilson MG, Maronde RF, Mikity VG, Shinno NW., Dwarfism and congenital medullary stenosis (Kenny syndrome). Birth Defects Orig Artic Ser. 1974; 10 (12): 128-32.