苯丙氨酸
低磷血症性佝偻病
生物
外显子
遗传学
佝偻病
骨软化症
无义突变
基因
低磷血症
突变
基因突变
错义突变
内分泌学
维生素D与神经学
作者
Henna Tyynismaa,Ilkka Kaitila,Kirsti N�nt�-Salonen,Marja Ala‐Houhala,Tiina Alitalo
标识
DOI:10.1002/(sici)1098-1004(200004)15:4<383::aid-humu18>3.0.co;2-
摘要
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).
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