Title: A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13
Authors: Morgan, N V ×
Bacchelli, C
Gissen, P
Morton, J
Ferrero, G B
Silengo, M
Labrune, P
Casteels, Ingele
Hall, C
Cox, P
Kelly, D A
Trembath, R C
Scambler, P J
Maher, E R
Goodman, F R
Johnson, C A #
Issue Date: Jun-2003
Series Title: Journal of medical genetics vol:40 issue:6 pages:431-5
Abstract: Asphyxiating thoracic dystrophy (ATD), or Jeune syndrome, is a multisystem autosomal recessive disorder associated with a characteristic skeletal dysplasia and variable renal, hepatic, pancreatic, and retinal abnormalities. We have performed a genome wide linkage search using autozygosity mapping in a cohort of four consanguineous families with ATD, three of which originate from Pakistan, and one from southern Italy. In these families, as well as in a fifth consanguineous family from France, we localised a novel ATD locus (ATD) to chromosome 15q13, with a maximum cumulative two point lod score at D15S1031 (Zmax=3.77 at theta=0.00). Five consanguineous families shared a 1.2 cM region of homozygosity between D15S165 and D15S1010. Investigation of a further four European kindreds, with no known parental consanguinity, showed evidence of marker homozygosity across a similar interval. Families with both mild and severe forms of ATD mapped to 15q13, but mutation analysis of two candidate genes, GREMLIN and FORMIN, did not show pathogenic mutations.
ISSN: 0022-2593
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Ophthalmology
× corresponding author
# (joint) last author

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