A Cys634Gly substitution of the RET proto‐oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis

Clinical Genetics - Tập 51 Số 2 - Trang 86-90 - 1997
Marco Seri1, Iacopo Celli1, Nicola Betsos1, F Claudiani2, G Camera3, G. Romeo4,1
1Laboratorio Genetica Molecolare, Istituto G. Gaslini, Genova Quarto
2Servizio Medicina Nucleare, Ospedale Galliera, Genova
3Servizio Genetica Clinica e Dismorfologia. Ospedale Galliera, Genova, Italy
4International Agency for Research on Cancer, Lyon, France

Tóm tắt

Germ‐line mutations of the RET proto‐oncogene, involving five cysteine residues at codons 609, 611, 618, 620 and 634, are associated with two variants of the inherited cancer syndrome multiple endocrine neoplasia type 2: type 2A and familial medullary thyroid carcinoma. The association of multiple endocrine neoplasia type 2A with the dermatological disorder cutaneous lichen amyloidosis has already been reported, and mutations in the Cys634 have been identified in different families. We describe here an additional pedigree in which multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis cosegregate. A Cys634Gly was identified by direct sequencing of the RET proto‐oncogene exon 11 in the affected individuals. The mutation creates a new HaeIII site, and restriction analysis performed on all family members rules out the presence of the altered allele in two children and consequently the risk of developing thyroid tumors. These results emphasize the role of molecular analysis of the RET proto‐oncogene in diagnosing presymptomatically those individuals at risk of inheriting the disease allele.

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Clinical Genetics

Tập 51 Số 2

86-90

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