An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14
Peter Lichtnera, Rainer Königb, Tomonobu Hasegawac, Hilde Van Eschd, Thomas Meitingera, Simone Schuffenhauera
a Department of Medical Genetics, Children's Hospital, Ludwig-Maximilians-University Munich, Goethestrasse 29, D-80336 Munich, Germany, b Institute of Human Genetics Humangenetik, Johann Wolfgang Goethe University Frankfurt, Theodor-Stern-Kai 7, D-60590 Frankfurt, Germany, c Department of Paediatrics, Keio University School of Medicine, 35 Shinanomachi Shinjuku-ku Tokyo, Japan, d Laboratory for Molecular Oncology, Centre for Human Genetics, University of Leuven and Flanders, Interuniversity Institute for Biotechnology, B-3000 Leuven, Belgium
Correspondence to: Dr Schuffenhauer
Revised version received 25 August 1999;
Accepted for publication 10 September 1999
Partial monosomy 10p is a rare chromosomal condition and a
significant proportion of patients show features of DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). A critical
haploinsufficiency region for DGS/VCFS was defined on 10p
(DGCR2). We performed molecular deletion
analysis of two further patients with partial monosomy 10p, who showed
hypoparathyroidism, deafness, and renal dysplasia or renal
insufficiency, but no cardiac defect, cleft palate, or reduced T cell
levels. Previously, the combination of hypoparathyroidism, deafness,
and renal dysplasia has been proposed to represent a specific syndrome
(MIM 146255) under the acronym HDR. In addition to the two patients in
this report, at least four published cases with partial monosomy 10p
show the triad of HDR and 14 other patients present with at least two
of the three features. We therefore conclude that HDR syndrome can be
associated with partial monosomy 10p. Based on molecular deletion
analysis and the clinical data, we suggest that the DGS/VCFS phenotype
associated with 10p deletion can be considered as a contiguous gene
syndrome owing to haploinsufficiency of two different regions.
Hemizygosity of the proximal region, designated
DGCR2, can cause cardiac defect and T cell
deficiency. Hemizygosity of the distal region, designated
HDR1, can cause hypoparathyroidism and in
addition sensorineuronal deafness and renal dysplasia/insufficiency or
a subset of this triad.
Keywords: hypoparathyroidism; deafness; renal dysplasia; DiGeorge syndrome
© 2000 by J Med Genet
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