TY - JOUR
T1 - New mutations in the NHS gene in Nance-Horan Syndrome families from the Netherlands
AU - Florijn, Ralph J.
AU - Loves, Willem
AU - Maillette de Buy Wenniger-Prick, Liesbeth J. J. M.
AU - Mannens, Marcel M. A. M.
AU - Tijmes, Nel
AU - Brooks, Simon P.
AU - Hardcastle, Alison J.
AU - Bergen, Arthur A. B.
PY - 2006
Y1 - 2006
N2 - Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders
AB - Mutations in the NHS gene cause Nance-Horan Syndrome (NHS), a rare X-chromosomal recessive disorder with variable features, including congenital cataract, microphthalmia, a peculiar form of the ear and dental anomalies. We investigated the NHS gene in four additional families with NHS from the Netherlands, by dHPLC and direct sequencing. We identified an unique mutation in each family. Three out of these four mutations were not reported before. We report here the first splice site sequence alteration mutation and three protein truncating mutations. Our results suggest that X-linked cataract and NHS are allelic disorders
U2 - https://doi.org/10.1038/sj.ejhg.5201671
DO - https://doi.org/10.1038/sj.ejhg.5201671
M3 - Article
C2 - 16736028
SN - 1018-4813
VL - 14
SP - 986
EP - 990
JO - European journal of human genetics
JF - European journal of human genetics
IS - 9
ER -