A locus for asphyxiating thoracic dystrophy, ATD, maps to chromosome 15q13

N V Morgan, C Bacchelli, P Gissen, J Morton, G B Ferrero, M Silengo, P Labrune, I Casteels, C Hall, P Cox, D A Kelly, R C Trembath, P J Scambler, E R Maher, F R Goodman, C A Johnson

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57 Citations (Scopus)

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
Original languageEnglish
Pages (from-to)431 - 435
Number of pages5
JournalJournal of Medical Genetics
Volume40
Issue number6
DOIs
Publication statusPublished - 1 Jun 2003

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