Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2000-10

AUTHORS

Kohei Sato, Toshihiro Tajima, Jun Nakae, Masanori Adachi, Yumi Asakura, Katsuhiko Tachibana, Seizo Suwa, Noriyuki Katsumata, Toshiaki Tanaka, Yoshiki Hayashi, Shuji Abe, Mari Murashita, Koji Okuhara, Nozomi Shinohara, Kenji Fujieda

ABSTRACT

X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder characterized by renal phosphate wasting, abnormal vitamin D metabolism, and defects of bone mineralization. The phosphate-regulating gene on the X-chromosome (PHEX) that is defective in XLH has been cloned, and its location identified at Xp22.1. It has been recognized to be homologous to certain endopeptidases. So far, a variety of PHEX mutations have been identified mainly in European and North American patients with XLH. To analyze the molecular basis of four unrelated Japanese families with XLH, we determined the nucleotide sequence of the PHEX gene of affected members. We detected a new nonsense mutation (R198X) in exon 5, a new 3 nucleotides insertion mutation in exon 12 and a new missense mutation (L160R) in exon 5 as well as a previously reported nonsense mutation in exon 8 (R291X). These results suggest that:1) PHEX gene mutations are responsible for XLH in Japanese patients, and 2) PHEX gene mutations are heterogeneous in the Japanese population similarly to other ethnic populations. More... »

PAGES

536-540

Identifiers

URI

http://scigraph.springernature.com/pub.10.1203/00006450-200010000-00019

DOI

http://dx.doi.org/10.1203/00006450-200010000-00019

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1020701969

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/11004247


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26 schema:description X-linked hypophosphatemic rickets (XLH) is an X-linked dominant disorder characterized by renal phosphate wasting, abnormal vitamin D metabolism, and defects of bone mineralization. The phosphate-regulating gene on the X-chromosome (PHEX) that is defective in XLH has been cloned, and its location identified at Xp22.1. It has been recognized to be homologous to certain endopeptidases. So far, a variety of PHEX mutations have been identified mainly in European and North American patients with XLH. To analyze the molecular basis of four unrelated Japanese families with XLH, we determined the nucleotide sequence of the PHEX gene of affected members. We detected a new nonsense mutation (R198X) in exon 5, a new 3 nucleotides insertion mutation in exon 12 and a new missense mutation (L160R) in exon 5 as well as a previously reported nonsense mutation in exon 8 (R291X). These results suggest that:1) PHEX gene mutations are responsible for XLH in Japanese patients, and 2) PHEX gene mutations are heterogeneous in the Japanese population similarly to other ethnic populations.
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34 D metabolism
35 Japanese family
36 Japanese patients
37 Japanese population
38 North American patients
39 PHEX gene
40 PHEX gene mutations
41 PHEX mutations
42 XLH
43 Xp22.1
44 abnormal vitamin D metabolism
45 basis
46 bone mineralization
47 certain endopeptidases
48 chromosomes
49 defects
50 disorders
51 dominant disorder
52 endopeptidases
53 ethnic populations
54 exon 12
55 exon 5
56 exon 8
57 family
58 gene mutations
59 genes
60 hypophosphatemic rickets
61 insertion mutation
62 location
63 members
64 metabolism
65 mineralization
66 missense mutations
67 molecular basis
68 mutations
69 new missense mutation
70 new nonsense mutation
71 nonsense mutation
72 novel PHEX gene mutations
73 nucleotide insertion mutation
74 nucleotide sequence
75 patients
76 phosphate wasting
77 phosphate-regulating gene
78 population
79 renal phosphate wasting
80 results
81 rickets
82 sequence
83 unrelated Japanese families
84 variety
85 vitamin D metabolism
86 wasting
87 schema:name Three Novel PHEX Gene Mutations in Japanese Patients with X-Linked Hypophosphatemic Rickets
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