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Congenital central hypoventilation syndrome: Mutation analysis of the receptor tyrosine kinase RET

✍ Scribed by Bolk, Stacey; Angrist, Misha; Schwartz, Stuart; Silvestri, Jean M.; Weese-Mayer, Debra E.; Chakravarti, Aravinda

Book ID
102645031
Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
10 KB
Volume
63
Category
Article
ISSN
0148-7299

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✦ Synopsis

Congenital central hypoventilation syndrome (CCHS) usually occurs as an isolated phenotype. However, 16% of the index cases are also affected with Hirschsprung disease (HSCR). Complex segregation analysis suggests that CCHS is familial and has the same inheritance pattern with or without HSCR. We postulate that alteration of normal fimction of the receptor tyrosine kinase, RET, may contribute to CCHS based on RET's expression pattern and the identification of RET mutations in HSCR patients.

To fiuther explore the nature of the inheritance of CCHS, we have undertaken two main routes of investigation: cytogenetic analysis and mutation detection.

Cytogenetic analysis of metaphase chromosomes showed normal karyotypes in 13 of the 14 evaluated index cases; one index case carried a familial pencentric inversion on chromosome 2. Mutation analysis showed no sequence changes unique to index cases, as compared to control individuals, and as studied by single strand conformational polymorphism (SSCP) analysis of the coding region of RET. We conclude that point mutations in the RET coding region cannot account

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