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 I Hall C Cox P Kelly D A Trembath R C Scambler P J Maher E R Goodman F R Johnson C A |
| |
Affiliation: | Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham Medical School, Birmingham B15 2TT, UK. |
| |
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. |
| |
Keywords: | |
本文献已被 PubMed 等数据库收录! |
|