A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Huber, Céline; Delezoide, Anee-Lise; Guimiot, Fabien; Baumann, Clarisse; Malan, Valérie; Merrer, Martine Le; Silva, Daniela Bezerra Da; Bonneau, Dominique; Chatelain, Pierre; Chu, Carol; Clark, Robin D.; Cox, Helen; Edery, Patrick; Edouard, Thomas; Fano, Virginia; Gibson, Kate; Gillessen‐Kaesbach, Gabriele; Giovannucci-Uzielli, M. L.; Graul‐Neumann, Luitgard; Hagen, Johana-Maria van; Hest, Liselot van; Horovitz, Dafne Dain Gandelman; Melki, Judith; Partsch, Carl-Joachim; Plauchu, H; Rajab, Anna; Rossi, Massimiliano; Sillence, David; Steichen-Gersdorf, Elisabeth; Stewart, Helen; Unger, Sheila; Zenker, Martin; Münnich, Arnold; Cormier‐Daire, Valérie

doi:10.1038/ejhg.2008.200

Cited by 52 publications

(46 citation statements)

References 16 publications

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“…Two mutations (c.3379_3380delTG, p.W1127Efs*38 and c.4451_4452delTG, p.V1484Gfs*68) have been previously described (Huber et al 2009); however, the remaining nine mutations are novel: three frameshift, three missense, two splice-site and one nonsense mutation.…”

Section: Genetic Analysismentioning

confidence: 99%

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Hanson¹,

Murray²,

Coulson³

et al. 2012

Journal of Molecular Endocrinology

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3-M syndrome is a primordial growth disorder caused by mutations in CUL7, OBSL1 or CCDC8. 3-M patients typically have a modest response to GH treatment, but the mechanism is unknown. Our aim was to screen 13 clinically identified 3-M families for mutations, define the status of the GH-IGF axis in 3-M children and using fibroblast cell lines assess signalling responses to GH or IGF1. Eleven CUL7, three OBSL1 and one CCDC8 mutations in nine, three and one families respectively were identified, those with CUL7 mutations being significantly shorter than those with OBSL1 or CCDC8 mutations. The majority of 3-M patients tested had normal peak serum GH and normal/low IGF1. While the generation of IGF binding proteins by 3-M cells was dysregulated, activation of STAT5b and MAPK in response to GH was normal in CUL7

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Section: Genetic Analysismentioning

confidence: 99%

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Hanson¹,

Murray²,

Coulson³

et al. 2012

Journal of Molecular Endocrinology

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“…Consequently, a substrate, once bound to Fbw8, is positioned optimally for accepting an ubiquitin moiety in an E2-catalyzed transfer reaction. Cormier-Daire and coworkers (14,15) have found a large panel of cul7 germ line mutations in patients with the 3-M syndrome, which is characterized by pre-and post-natal growth retardation. In addition, both the cul7 (16) and fbw8 (17) null mice exhibit intrauterine growth retardation.…”

mentioning

confidence: 99%

Identification of the Degradation Determinants of Insulin Receptor Substrate 1 for Signaling Cullin-RING E3 Ubiquitin Ligase 7-mediated Ubiquitination

Keshwani

Meyer

et al. 2012

Journal of Biological Chemistry

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Background: Negative feedback regulation of insulin signaling involves ubiquitin-dependent degradation of insulin receptor substrate 1 (IRS1). Results: Cullin-RING E3 ubiquitin ligase 7 (CRL7) mediates the ubiquitination of IRS1 in hyperphosphorylated form. Conclusion: Multisite IRS1 phosphorylation triggers interactions with CRL7 for ubiquitin modification. Significance: Insulin signaling is self-restrained when its downstream effector kinases are hyperactivated to trigger the negative feedback inhibition.

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“…It is generally reassuringly informative that the disease has been identified. [1][2][3][4][5][6][7][8][9][10][11] …”

Section: If Applicable Further Consequences Of Testingmentioning

confidence: 99%

Clinical utility gene card for: 3M syndrome

2011

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A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

Cited by 52 publications

References 16 publications

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling

Identification of the Degradation Determinants of Insulin Receptor Substrate 1 for Signaling Cullin-RING E3 Ubiquitin Ligase 7-mediated Ubiquitination

Clinical utility gene card for: 3M syndrome

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