Premium
Brachydactyly and short stature in a kindred with early‐onset parkinsonism
Author(s) -
Dekker Marieke C.J.,
Galjaard R.J.H.,
Snijders P.J.L.M.,
Heutink P.,
Oostra B.A.,
van Duijn C.M.
Publication year - 2004
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.30021
Subject(s) - brachydactyly , parkinsonism , short stature , genetics , biology , linkage disequilibrium , gene , medicine , allele , endocrinology , haplotype , disease
In a Dutch kindred we have identified a deletion of the DJ ‐ 1 gene, leading to autosomal‐recessive parkinsonism. The parkinsonism patients also had short stature and brachydactyly. In the family and a control group from the same community, we used the DJ‐1 deletion as a marker for the originally linked PARK7 region and found a significant association with body height ( P = 0.005), which suggests a gene in linkage disequilibrium with DJ‐1 to be implicated in short stature. Analysis of hand‐bone length showed incomplete segregation of the PARK7 region with brachydactyly, such that a gene in PARK7 is unlikely to fully explain the brachydactyly. Since the bone length reduction was more pronounced in the homozygous parkinsonism patients than in their heterozygous relatives, however, the PARK7 region may contain a modifier gene for growth. © 2004 Wiley‐Liss, Inc.