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Exclusion of linkage to the CDL1 gene region on chromosome 3q26.3 in some familial cases of Cornelia de Lange Syndrome

Lookup NU author(s): Dr Emma Tonkin, Professor Tom Strachan


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Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageaI dysfunction, hearing loss, as well as growth and neurodevelopmental retardation. Most cases of CdLS appear to be sporadic. Familial eases are rare and indicate autosomal dominant inheritance, Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). Pt has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial eases of CdLS, Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total led-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, led-scores were less than -2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, led-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3. (C) 2001 Wiley-Liss, Inc.

Publication metadata

Author(s): Tonkin E; Strachan T; Krantz ID; Smith M; Devoto M; Bottani A; Simpson C; Hofreiter M; Abraham V; Jukofsky L; Conti BP; Jackson L

Publication type: Article

Publication status: Published

Journal: American Journal of Medical Genetics

Year: 2001

Volume: 101

Issue: 2

Pages: 120-129

ISSN (print): 1552-4825

ISSN (electronic): 1552-4833

Publisher: John Wiley & Sons, Inc.


DOI: 10.1002/1096-8628(20010615)101:2<120::AID-AJMG1319>3.0.CO;2-G


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Funder referenceFunder name
5 K08 DK02541-02NIDDK NIH HHS