Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

Goseki‐Sone, Masae; Orimo, Hideo; Iimura, Tadahiro; Takagi, Yasuaki; Watanabe, Hisashi; Taketa, Kazuhisa; Sato, Seiji; Mayanagi, Hideaki; Shimada, Takashi; Oida, Shinichiro

doi:10.1002/humu.1380110184

Cited by 48 publications

(48 citation statements)

References 15 publications

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“…Some of them were recurrently found in unrelated patients but only two may be considered as frequent: E174K (571 G?A), which represents 7% of the tested Caucasian chromosomes, 4 and 1159delT, which is frequently found in Japanese patients. 5,6 The E174K mutation is mostly associated with mild (childhood, adult and odonto-) hypophosphatasia 7,8 and was found in 31% of our patients affected with these clinical forms. Because the patients originated from various coun-tries, we investigated the likelihood of a unique origin or of multiple origins due to recurrence of de novo mutations.…”

Section: Introductionmentioning

confidence: 75%

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

et al. 2002

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Hypophosphatasia is a rare inborn error of metabolism characterised by defective bone mineralisation caused by a deficiency of liver-, bone-or kidney-type alkaline phosphatase due to mutations in the tissuenonspecific alkaline phosphatase (TNSALP) gene. The clinical expression of the disease is highly variable, ranging from stillbirth with a poorly mineralised skeleton to pathologic skeletal fractures which develop in late adulthood only. This clinical heterogeneity is due to the strong allelic heterogeneity in the TNSALP gene. We found that mutation E174K is the most frequent in Caucasian patients, and that it was carried by 31% of our patients with mild hypophosphatasia. Because the mutation was found in patients of various geographic origins, we investigated whether it had a unique origin or rather multiple origins due to recurrence of de novo mutations. Three intragenic polymorphisms, S93S, 472+12delG and V505A, were genotyped in patients carrying E174K and in normal unrelated individuals. Our results show that all the E174K mutations are carried by a common ancestral haplotype, also found at low frequency in normal and hypophosphatasia chromosomes. We conclude that the TNSALP gene E174K mutation is the result of a relatively ancient ancestral mutation that occurred on a single chromosome in the north of Western Europe and spread throughout the rest of Europe and into the New World as a result of human migration.

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Section: Introductionmentioning

confidence: 75%

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

et al. 2002

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“…This gene, localized on chromosome 1p36.1-34 (Greenberg et al 1990), consists of 12 exons distributed over 50 kb (Weiss et al 1988). Mutations in the TNSALP gene have been found in North American, European and Japanese patients (Weiss et al 1988, Henthorn et al 1992, Greenberg et al 1993, Orimo et al 1994, Fedde et al 1996, Ozono et al 1996, Orimo et al 1997, Mornet et al 1998, Sugimoto et al 1998, Goseki-Sone et al 1998. We now report the characterization of 15 additional new mutations in patients with severe or mild hypophosphatasia.…”

Section: Introductionmentioning

confidence: 79%

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

et al. 2000

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“…In one of these two families, the patient was shown to be homozygous for the Gly334Asp mutation. In the second family, the patient was a genetic compound for the founder Mennonite Gly334Asp mutation and a Val382Ile mutation which has previously been reported (Goseki-Sone et al 1998). A sibling of this patient was similarly affected and their parents were shown to be carriers of either the Gly334Asp mutation or the Val382Ile mutation.…”

Section: Diagnosismentioning

confidence: 90%

Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

et al. 2013

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Hypophosphatasia (HPP) is the metabolic bone disease caused by loss-of-function mutation within the gene that encodes the "tissue nonspecific" isoenzyme of alkaline phosphatase (TNSALP). Perinatal HPP is usually fatal due to respiratory insufficiency, and infantile HPP often has a similar outcome although no formal study into the natural history of these severe forms of HPP has been undertaken. We reviewed our 80-year (1927-

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Hypophosphatasia: Identification of five novel missense mutations (G507A, G705A, A748G, T1155C, G1320A) in the tissue-nonspecific alkaline phosphatase gene among Japanese patients

Cited by 48 publications

References 15 publications

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

Evidence of a founder effect for the tissue-nonspecific alkaline phosphatase (TNSALP) gene E174K mutation in hypophosphatasia patients

Fifteen new mutations (-195C>T, L-12X, 298-2A>G, T117N, A159T, R229S, 997+2T>A, E274X, A331T, H364R, D389G, 1256delC, R433H, N461I, C472S) in the tissue-nonspecific alkaline phosphatase (TNSALP) gene in patients with hypophosphatasia

Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis

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