Prevalence of c.1559delT in ALPL, a common mutation resulting in the perinatal (lethal) form of hypophosphatasia in Japanese and effects of the mutation on heterozygous carriers

Journal of Human Genetics

Volumn 56, Issue 2, 2011, Pages 166-168

  Watanabe, Atsushi ^a,b   Karasugi, Tatsuki ^c   Sawai, Hideaki ^d   Naing, Banyar Than ^b   Ikegawa, Shiro ^c   Orimo, Hideo ^b   Shimada, Takashi ^a,b  

^a NIPPON MEDICAL SCHOOL HOSPITAL   (Japan)

^b NIPPON MEDICAL SCHOOL   (Japan)

^c RIKEN   (Japan)

^d HYOGO COLLEGE OF MEDICINE   (Japan)

Author keywords

ALPL; c.1559delT; perinatal form of hypophosphatasia; serum alkaline phosphatase; skeletal dysplasia; urine phosphoethanolamine

Indexed keywords

AMINE; PHOSPHOTHANOLAMINE; UNCLASSIFIED DRUG;

ALPL GENE; ARTICLE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPOPHOSPHATASIA; PREVALENCE; PROTEIN BLOOD LEVEL; URINALYSIS;

ALKALINE PHOSPHATASE; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC TESTING; HETEROZYGOTE; HUMANS; HYPOPHOSPHATASIA; MALE; MUTATION; PREVALENCE;

EID: 79952179096     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1038/jhg.2010.161     Document Type: Article

References (20)

1. Mornet, E. Hypophosphatasia. Best Pract. Res. Clin. Rheumatol. 22, 113-127 (2008).
2. Whyte, M. P. Hypophosphatasia and the role of alkaline phosphatase in skeletal mineralization. Endocr. Rev. 15, 439-461 (1994).
3. Satoh, N., Murotsuki, A. & Sawai, H. The birth prevalence rates for skeletal dysplasia in the registration system of the Japan Forum of Fetal Skeletal Dysplasia. J. Jan. Perinat. Neonat. Med. 45, 1005-1007 (2009) (Japanese).
4. Gehring, B., Mornet, E., Plath, H., Hansmann, M., Bartmann, P. & Brenner, R. E. Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family. Clin. Genet. 56, 313-317 (1999).
5. Spentchian, M., Merrien, Y., Herasse, M., Dobbie, Z., Gläser, D., Holder, S. E. et al. Severe hypophosphatasia: characterization of fifteen novel mutations in the ALPL gene. Hum. Mutat. 22, 105-106 (2003).
6. Zankl, A., Mornet, E. & Wong, S. Specific ultrasonographic features of perinatal lethal hypophosphatasia. Am. J. Med. Genet. 146A, 1200-1204 (2008). (Pubitemid 351628609)
7. Sergi, C., Mornet, E., Troeger, J. & Voigtlaender, T. Perinatal hypophosphatasia: radiology, pathology and molecular biology studies in a family harboring a splicing mutation (648+1A) and a novel missense mutation (N400S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene. Am. J. Med. Genet. 103, 235-240 (2001).
8. Mornet, E., Taillandier, A., Peyramaure, S., Kaper, F., Muller, F., Brenner, R. et al. Identification of fifteen novel mutations in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in European patients with severe hypophosphatasia. Eur. J. Hum. Genet. 6, 308-314 (1998). (Pubitemid 28395790)
9. The Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database. .
10. Michigami, T., Uchihashi, T., Suzuki, A., Tachikawa, K., Nakajima, S. & Ozono, K. Common mutations F310L and T1559del in the tissue-nonspecific alkaline phosphatase gene are related to distinct phenotypes in Japanese patients with hypophosphatasia. Eur. J. Pediatr. 164, 277-282 (2005). (Pubitemid 40603309)
11. Orimo, H., Goseki-Sone, M., Inoue, M., Tsubakio, Y., Sakiyama, T. & Shimada, T. Importance of deletion of T at nucleotide 1559 in the tissue-nonspecific alkaline phosphatase gene in Japanese patients with hypophosphatasia. J. Bone Miner. Metab. 20, 28-33 (2002). (Pubitemid 34101092)
12. Watanabe, A., Yamamasu, S., Shinagawa, T., Suzuki, Y., Takeshita, T., Orimo, H. et al. Prenatal genetic diagnosis of severe perinatal (lethal) hypophosphatasia. J. Nippon Med. Sch. 74, 65-69 (2007). (Pubitemid 46364347)
13. Sawai, H., Kanazawa, N., Tsukahara, Y., Koike, K., Udagawa, H., Koyama, K. et al. Severe perinatal hypophosphatasia due to homozygous deletion of T at nucleotide 1559 in the tissue nonspecific alkaline phosphatase gene. Prenat. Diagn. 23, 743-746 (2003). (Pubitemid 37158467)
14. Gundry, C. N., Dobrowolski, S. F., Martin, Y. R., Robbins, T. C., Nay, L. M., Boyd, N. et al. Base-pair neutral homozygotes can be discriminated by calibrated high-resolution melting of small amplicons. Nucleic Acids Res. 36, 3401-3408 (2008). (Pubitemid 351859007)
15. Nakamura-Utsunomiya, A., Okada, S., Hara, K., Miyagawa, S., Takeda, K., Fukuhara, R. et al. Clinical characteristics of perinatal lethal hypophosphatasia: a report of 6 cases. Clin. Pediatr. Endcrinol. 19, 7-13 (2010).
16. Komaru, K., Ishida, Y., Amaya, Y., Goseki-Sone, M., Orimo, H. & Oda, K. Novel aggregate formation of a frame-shift mutant protein of tissue-nonspecific alkaline phosphatase is ascribed to three cysteine residues in the C-terminal extension. Retarded secretion and proteasomal degradation. FEBS J. 272, 1704-1717 (2005). (Pubitemid 40516220)
17. Kamatani, Y., Matsuda, K., Okada, Y., Kubo, M., Hosono, N., Daigo, Y. et al. Genomewide association study of hematological and biochemical traits in a Japanese population. Nat. Genet. 42, 210-215 (2010).
18. Whyte, M. P., Landt, M., Ryan, L. M., Mulivor, R. A., Henthorn, P. S., Fedde, K. N. et al. Alkaline phosphatase: placental and tissue-nonspecific isoenzymes hydrolyze phosphoethanolamine, inorganic pyrophosphate, and pyridoxal 5¢-phosphate. Substrate accumulation in carriers of hypophosphatasia corrects during pregnancy. J. Clin. Invest. 95, 1440-1445 (1995).
19. Vossen, R. H., Aten, E., Roos, A. & den Dunnen, J. T. High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum. Mutat. 30, 860-866 (2009).
20. Tongsong, T. & Pongsatha, S. Early prenatal sonographic diagnosis of congenital hypophosphatasia. Ultrasound Obstet. Gynecol. 15, 252-255 (2000). (Pubitemid 33111845)