TY - JOUR
T1 - Mutation analysis of LMX1B gene in Nail-patella syndrome patients
AU - McIntosh, Iain
AU - Dreyer, Sandra D.
AU - Clough, Mark V.
AU - Dunston, Jennifer A.
AU - Eyaid, Waf A.a.
AU - Roig, Carmen M.
AU - Montgomery, Tara
AU - Ala-Mello, Sirpa
AU - Kaitila, Ilkka
AU - Winterpacht, Andreas
AU - Zabel, Bernhard
AU - Frydman, Moshe
AU - Cole, William G.
AU - Francomano, Clair A.
AU - Lee, Brendan
N1 - Funding Information:
The authors wish to thank NPS family members for taking part in this study. This work was supported, in part, by National Institutes of Health grants AR44702 (to I.M.) and AR44738 (to B.L.) and NIGMS Pre-Doctoral Training Grant GM07814 and by funds from the March of Dimes Birth Defects Foundation (to B.L.), the Arthritis Foundation (to B.L.), the Baylor College of Medicine Child Health Research Center (to B.L.), Deutsche Forschungsgemeinschaft (to S.D.D., A.W., and B.Z.), King Fahad Hospital, Health Affairs, Saudi Arabia (to W.E.), and the Division of Intramural Research, NHGRI.
PY - 1998
Y1 - 1998
N2 - Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
AB - Nail-patella syndrome (NPS), a pleiotropic disorder exhibiting autosomal dominant inheritance, has been studied for >100 years. Recent evidence shows that NPS is the result of mutations in the LIM-homeodomain gene LMX1B. To determine whether specific LMX1B mutations are associated with different aspects of the NPS phenotype, we screened a cohort of 41 NPS families for LMX1B mutations. A total of 25 mutations were identified in 37 families. The nature of the mutations supports the hypothesis that NPS is the result of haploinsufficiency for LMX1B. There was no evidence of correlation between aspects of the NPS phenotype and specific mutations.
UR - http://www.scopus.com/inward/record.url?scp=0032471924&partnerID=8YFLogxK
U2 - 10.1086/302165
DO - 10.1086/302165
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AN - SCOPUS:0032471924
SN - 0002-9297
VL - 63
SP - 1651
EP - 1658
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
IS - 6
ER -