Publications by authors named "Christelle Domingues"

Hypophosphatasia (HPP) is a rare inherited disease affecting bone and dental mineralization due to loss-of-function mutations in the ALPL gene encoding the tissue nonspecific alkaline phosphatase (TNSALP). Prenatal benign HPP (PB HPP) is a rare form of HPP characterized by in utero skeletal manifestations that progressively improve during pregnancy but often still leave symptoms after birth. Because the prenatal context limits the diagnostic tools, the main difficulty for clinicians is to distinguish PB HPP from perinatal lethal HPP, the most severe form of HPP.

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Hypophosphatasia (HPP) is caused by pathogenic variants in the ALPL gene. There is a large continuum in the severity, ranging from a lethal perinatal form to dental issues. We analyzed a cohort of 424 HPP patients from European geographic origin or ancestry.

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Article Synopsis
  • - Hypophosphatasia (HPP) is a rare genetic bone disorder caused by a deficiency in tissue nonspecific alkaline phosphatase due to mutations in the ALPL gene, leading to low serum alkaline phosphatase levels, which serve as a key marker for the disease.
  • - The symptoms of adult HPP can be mild and non-specific, resembling conditions commonly found in the general population, such as joint pain and osteomalacia, complicating diagnosis and raising questions about the role of ALPL mutations in these symptoms.
  • - A study examined 61 adult patients with heterozygous ALPL mutations, finding that half had mutations expected to cause no dominant negative effect, suggesting alternative genetic factors might influence the severity
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Hypophosphatasia (HPP) is a rare inherited skeletal dysplasia due to loss of function mutations in the ALPL gene. The disease is subject to an extremely high clinical heterogeneity ranging from a perinatal lethal form to odontohypophosphatasia affecting only teeth. Up to now genetic diagnosis of HPP is performed by sequencing the ALPL gene by Sanger methodology.

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