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Candidate region for Coffin-Siris syndrome at 7q32-->34
E M McGhee1, C J Klump, S M Bitts
1Department of Pediatrics-Medical Genetics, University of California, San Francisco 94143, USA. mcghee@itsa.ucsf.edu
Insights
Coffin-Siris syndrome, a rare genetic disorder, is linked to a specific chromosomal translocation. This finding suggests a candidate gene region on chromosome 7 may be responsible for the syndrome.
Area of Science:
- Genetics
- Medical Genetics
- Human Genetics
Background:
- Coffin-Siris syndrome (CSS) is a rare genetic disorder with unknown etiology.
- CSS is characterized by intrauterine growth retardation, developmental delay, distinctive facial features, and nail hypoplasia.
Observation:
- A case study of an 11-year-old girl with CSS is presented.
- The patient exhibited a de novo, balanced reciprocal translocation between chromosomes 7 and 22, specifically t(7;22)(q32;q11.2).
Findings:
- The breakpoint on chromosome 7q in this patient is similar to a previously reported case with a t(1;7)(q21.3;q34) translocation.
- These findings implicate the 7q32-->34 region as a potential candidate locus for the gene responsible for Coffin-Siris syndrome.
Implications:
- This research narrows down the potential genetic region associated with Coffin-Siris syndrome.
- Identifying the specific gene in the 7q32-->34 region could lead to improved diagnostics and potential therapeutic strategies for CSS.
Abstract:
Coffin-Siris syndrome is characterized by intrauterine growth retardation, mental deficiency, coarse face, hypoplastic fifth fingers and nails, hirsutism, and initial difficulties with feeding. The etiology of this syndrome is unknown. We report on an 11-year-old girl with Coffin-Siris syndrome and a de novo, apparently balanced reciprocal translocation between chromosomes 7 and 22 [t(7;22)(q32;q11.2)]. The 7q breakpoint in our patient is very similar to the breakpoint reported in a previous case [McPherson et al., 1997: Am J Med Genet 71:430-433] with a balanced t(1;7)(q21.3;q34). Together, these patients provide evidence that the region 7q32-->34 is a candidate region for the gene responsible for Coffin-Siris syndrome.