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Two sporadic cases of liddle's syndrome caused by de novo ENaC mutations

2001; Elsevier BV; Volume: 37; Issue: 3 Linguagem: Inglês

10.1016/s0272-6386(01)80006-8

1523-6838

Yumi Yamashita, Masafumi Koga, Yasuhiro Takeda, Mobuyuki Enomoto, Shin‐ichi Uchida, Kunihiko Hashimoto, Shigeru Yamano, Kazuhiro Dohi, Fumiaki Marumo, Sei Sasaki,

Genetic Syndromes and Imprinting

Liddle’s syndrome is a rare form of hereditary hypertension caused by mutations of the epithelial sodium (Na+) channel (ENaC). Analysis of the diseased pedigrees indicates an autosomal dominant inheritance, and the identified mutations are heterozygotes of gain-of-function mutations. However, sporadic cases of Liddle’s syndrome have been reported in the literature, including one recently reported case caused by a de novo mutation of ENaC. We identified two patients with Liddle’s syndrome who did not have family histories of hypertension. Sequence analysis showed a mutation in each case (P616L in βENaC and W576X in γENaC), both confirmed to be de novo mutations. These data indicate that Liddle’s syndrome should be considered even in patients without a family history of hypertension.