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Short Communication: Little phenotypic variability in three CF sibs compound heterozygous for the 621 + 1G ← T and the 711 + 1G ← T mutations
Author(s) -
Braekeleer Marc De,
Simard Fernand,
Aubin Gervais
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02456.x
Subject(s) - compound heterozygosity , genetics , phenotype , heterozygote advantage , mutation , biology , genotype , gene
We describe a family in which three sibs are compound heterozygotes for two rather rare CFTR splice‐site mutations, the 621 + 1G → T and the 711 + 1G → T mutations. Little phenotypic variation was observed between sibs, of whom two are deceased. Their disease is characterized by pancreatic insufficiency, a severe pulmonary involvement and major growth retardation.
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