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Case Reports
. 2006 Winter;10(4):252-7.
doi: 10.1089/gte.2006.10.252.

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments

Marc Spentchian  1 , Isabelle Brun-Heath, Agnès Taillandier, Delphine Fauvert, Jean-Louis Serre, Brigitte Simon-Bouy, Filipa Carvalho, Ilga Grochova, Sarju G Mehta, Grit Müller, Saskia Lesnik Oberstein, Gonul Ogur, Saba Sharif, Etienne Mornet
Affiliations
Case Reports

Characterization of missense mutations and large deletions in the ALPL gene by sequencing and quantitative multiplex PCR of short fragments

Marc Spentchian et al. Genet Test. 2006 Winter.

Abstract

Hypophosphatasia is a rare inherited bone disorder characterized by defective bone and dental mineralization and deficiency of serum and liver/bone/kidney alkaline phosphatase activity. The disease is due to mutations in the alkaline phosphatase liver-type (ALPL) gene. Gross deletions or insertions have not previously been reported in this gene. We report here the characterization of nine novel ALPL gene mutations in a series of 8 patients affected by various forms of hypophosphatasia. The newly discovered mutations included five missense mutations (c.368C --> A, c.814C--> T, c.1196C--> T, c.1199C--> T, c.1283G--> C), two small deletions (c.797_802del, c.1044_1055del), and two large deletions. The large deletions were detected by quantitative multiplex polymerase chain reaction (PCR) of short fluorescent fragments (QMPSF). We conclude that QMPSF slightly reduces the proportion of undetected mutations in hypophosphatasia and improves genetic counselling in the affected families.

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