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Exclusion of the Adrenocorticotropin (ACTH) Receptor (MC2R) Locus in Some Families with ACTH Resistance but No Mutations of the MC2R Coding Sequence (Familial Glucocorticoid Deficiency Type 2)

Unité INSERM/INRA U418 (D.N., P.D., M.B.), Hopital Debrousse, 69322 Lyon Cedex 05, France; Children’s Hospital (A.W.), Technical University, 01307 Dresden, Germany; Unité INSERM U155 (E.G.), Château de Longchamp, Bois de Boulogne, 75016 Paris Cedex, France; and Department of Chemical Endocrinology (A.J.L.C.), St. Bartholomew’s Hospital, London EC1A 7BE, United Kingdom

Address all correspondence and requests for reprints to: Danielle NAVILLE, INSERM-INRA U 418, Hôpital Debrousse, 29 Rue Soeur Bouvier, 69322 LYON Cedex 05, France. E-mail: naville{at}lyon151.inserm.fr

Several mutations in the coding exon of the ACTH receptor (MC2R) gene have been reported in cases of familial glucocorticoid deficiency or FGD. However, many patients with a similar syndrome do not present any mutation in the coding region of this gene. This is the case in 11 families we have investigated. Patients in these families present the typical clinical features of FGD, but no mutation was found in the coding exon of the ACTH receptor.

To determine whether mutations on MC2R gene, but outside the coding region, may be involved in FGD in these families, we have performed a linkage analysis. Using three markers flanking MC2R gene on chromosome 18, we were able to exclude linkage in a region of 12 centimorgans around the gene. This result clearly indicates that FGD is genetically heterogeneous. Defects in gene(s) different from MC2R gene are implicated in this syndrome.

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