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Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets
Author(s) -
Tyynismaa Henna,
Kaitila Ilkka,
NäntöSalonen Kirsti,
AlaHouhala Marja,
Alitalo Tiina
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200004)15:4<383::aid-humu18>3.0.co;2-#
Subject(s) - phex , hypophosphatemic rickets , biology , identification (biology) , rickets , genetics , gene , hypophosphatemia , bioinformatics , medicine , endocrinology , vitamin d and neurology , botany
We have carried out a mutation screening of the PHEX gene in Finnish patients with hypophosphatemia. A total of 100% (5/5) of the familial HYP patients (X‐linked hypophosphatemia) and 93% (14/15) of the sporadic cases were found to carry a mutation in the PHEX gene. We identified 18 mutations, of which 15 were novel. We report also a new polymorphism 46bp upstream of exon 16. Two families were segregating the same nonsense mutation in exon 1 (R20X), but since this mutation has been previously reported in three independent studies, we consider it to be a mutational hotspot rather than a Finnish founder mutation. We did not find PHEX gene mutations in two additional hypophosphatemia families in which the mode of inheritance was other than X‐linked dominant. Also, no mutation could be detected in a patient with suspected oncogenic osteomalacia (OHO). Hum Mutat 15:383–384, 2000. © 2000 Wiley‐Liss, Inc.