Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia

Wei, Kewen; Xuan, Kun; Luo, Yanli; Fang, Jun; Ji, Kun; Wang, Xi; Jin, Yan; Watanabe, Shigeru; Watanabe, Koji; Ojihara, Takashi

doi:10.1016/j.archoralbio.2010.08.003

Cited by 25 publications

(21 citation statements)

References 32 publications

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“…To date, at least 210 distinct mutations and 12 polymorphisms have been reported. Most of the reported mutations (79.3%) are missense mutations, and the remaining reported mutations are deletions (small deletions 10.1%, large deletions 0.9%), splicing mutations (4.1%), nonsense mutations (2.8%), small insertions (1.8%), a complex deletion + insertion, a de novo mutation, and a nucleotide substitution affecting the major transcription initiation site (17). After searching the single nucleotide polymorphism database and the human gene mutation database, we found that p.267_268delHF (c.799_804delCACTTC) mutation is absent from the two databases; thus, our patient carry a novel missense mutation in the ALPL gene.…”

Section: Discussionmentioning

confidence: 99%

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Nur

Çelmeli²,

Manguoğlu³

et al. 2016

Jcrpe

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Hypophosphatasia is a rare inherited disorder of bone and mineral metabolism caused by a number of loss-of-function mutations in the ALPL gene. It is characterized by defective bone and tooth mineralisation associated with low serum and bone alkaline phosphatase activity. The clinical presentation of this disease is extremely variable. For this reason, the diagnosis can be difficult and is often missed out or delayed. Hypophosphatasia is classified into subtypes based on the age of onset and clinical features. The clinical severity is associated with the age at diagnosis and the lack of tissue-nonspecific alkaline phosphatase activity; the severe forms of hypophosphatasia are primarily perinatal and infantile forms. Severe forms may present with many neurological problems such as seizures, hypotonia, irritability. Herein, we report the case of an infantile hypophosphatasia patient who presented with pyridoxine-responsive seizures and a novel homozygous mutation in the ALPL gene was detected. There is a limited number of hypophosphatasia patients with pyridoxine-responsive seizures in the literature, so early diagnosis of infantile hypophosphatasia in the clinically compatible patients allows more effective postnatal care/management and genetic counseling for further pregnancies.

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Section: Discussionmentioning

confidence: 99%

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Nur

Çelmeli²,

Manguoğlu³

et al. 2016

Jcrpe

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“…Patients that belong to the odontohypophosphatasia form, present taurodontism and there is absence of root cementum, which leads to inadequate attachment of the tooth to the periodontal ligament and premature exfoliation of deciduous teeth [84,86,87].…”

Section: Resultsmentioning

confidence: 99%

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2015

Int J Oral Dent Health

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“…Pulp chamber expansion and thin dentin have been reported in some studies, while others declared no HPP effect on dentin formation. Enamel hypoplasia and severe tooth caries have also been reported in HPP patients (3,4).…”

Section: Oral Manifestations Of Hpp Include a Characteristicmentioning

confidence: 96%

Enamel Defects in the Alpl- /- murine Model of Infantile Hypophosphatasia

Yokoi

Yamamoto-Nemoto

2017

Int J Oral-Med Sci

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Hypophosphatasia(HPP)is caused by mutations in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL). HPP patients develop deficient calcification of bones and teeth including defects in cementum, dentin, and enamel and the characteristic premature loss of primary teeth. Here, we investigated the enamel defects of knockout(Alpl -/-)mice compared with that of control wild type(Alpl +/+ )mice.No alkaline phosphatase (ALP) activity was detected by specific staining in the first molar germ of Alpl -/-mice on postnatal day 5. Hematoxylin and eosin staining revealed that the enamel layer in Alpl -/-mice was thin, undulated, and rugged. Furthermore, Alpl Our study suggests that ALP may have involvement in EMPs and enamel defects in Alpl -/-mice is caused by ameloblasts disorder. Furthermore, our study advances elucidation of the mechanisms that underlie enamel development, and will support establish the causes of enamel defects of HPP patients.

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Clinical, pathological and genetic evaluations of Chinese patients with autosomal-dominant hypophosphatasia

Cited by 25 publications

References 32 publications

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Pyridoxine-Responsive Seizures in Infantile Hypophosphatasia and a Novel Homozygous Mutation in ALPL Gene

Untitled

<b>Enamel Defects in the </b><b><i>Alpl</i></b><b><sup>- /- </sup></b><b>murine Model of Infantile Hypophosphatasia </b>

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