Hemizygosity at the insulin-like growth factor I eceptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome

Peoples, Risa; Milatovich, Athena; Francke, Uta

doi:10.1159/000134040

Cited by 49 publications

(47 citation statements)

References 12 publications

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“…These effects on both pre-and post-natal growth have also been suggested by genotype-phenotype analysis of patients with deletion of distal 15q and ring chromosome 15 who are all presenting with short stature [Roback et al, 1991;Peoples et al, 1995;Jain et al, 1998;de Lacerda et al, 1999;Tumer et al, 2004]. Moreover, the analysis of published cases with terminal 15q trisomy, who are associated with overgrowth, further emphasises the functional implication of IGF1R in preand post-natal growth and suggests a putative dosage effect of this IGF1 receptor gene [Faivre et al, 2002;Nagai et al, 2002].…”

Section: Discussionmentioning

confidence: 66%

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Detection of an unexpected subtelomeric 15q26.2 → qter deletion in a little girl: Clinical and cytogenetic studies

Pinson

Perrin

Plouzennec

et al. 2005

American J of Med Genetics Pt A

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Unlike the small proximal 15q deletions causing Prader-Willi and/or Angelman syndrome, distal deletions of the terminal long arm of chromosome 15 have rarely been described. To the best of our knowledge, only four patients with a pure terminal 15q deletion have been documented in the literature. We report here on an unexpected abnormal hybridization pattern for the 15q specific subtelomeric control probe (clone 154P1) of the commercial SNRPN probe in a girl referred for suspicion of Angelman syndrome. Investigation by fluorescent in situ hybridization (FISH) using bacterial artificial chromosome (BAC) clones defined a partial monosomy 15q26.2 --> 15qter for a minimal critical region of approximately 5.7 Mb, which is the most distal de novo 15qter deletion reported to date. All the de novo 15qter deletion cases, including ours, presented with pre- and post-natal growth retardation related to the loss of one copy of the IGF1R gene. Based on the comparaison with the previous published cases and owing to the clinical phenotype of our patient, we define a new subtelomeric 15qter syndrome which would be characterized by intrauterine growth retardation and global post-natal growth failure, variable mental retardation, facial anomalies including relative micrognathia and triangular facies and minor malformations of the extremities including proximally placed thumbs, cubitus valgus, and brachydactyly with tappering of the digits.

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Section: Discussionmentioning

confidence: 66%

“…IGF1R gene has been assigned to 15q26.3 [Peoples et al, 1995]. IGF1 receptor is a transmembrane tyrosine kinase receptor that transduces signals corresponding to IGF1 and, with less affinity, to IGF2 [LeRoith et al, 1995].…”

Section: Discussionmentioning

confidence: 99%

Detection of an unexpected subtelomeric 15q26.2 → qter deletion in a little girl: Clinical and cytogenetic studies

Pinson

Perrin

Plouzennec

et al. 2005

American J of Med Genetics Pt A

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“…8 Observations of distal deletions of chromosome 15q including the IGF1R gene suggest that growth failure might be related to IGF1R hemizygosity. 9 Here we report on four patients with overgrowth and trisomy 15q26.1-qter including the IGF1R gene.…”

Section: Introductionmentioning

confidence: 92%

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

et al. 2002

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Overgrowth is rarely associated with chromosomal imbalances. Here we report on four children from two unrelated families presenting with overgrowth and a terminal duplication of the long arm of chromosome 15 diagnosed using cytogenetic and FISH studies. In both cases, chromosome analysis of the parents showed a balanced translocation involving 15q26.1-qter. Molecular and cytogenetic studies showed three copies of the insulin-like growth factor 1 receptor (IGF1R) gene. This finding suggests that overgrowth observed in our patients might be causally related to a dosage effect of the IGF1R gene, in contrast to severe growth retardation observed in patients with terminal deletion of 15q. The present observation emphasises the importance of chromosome analysis in patients with overgrowth and mental retardation. Moreover, it further delineates a specific phenotype related to trisomy 15q26.1-qter with macrosomia at birth, overgrowth, macrocephaly and mild developmental delay being the major clinical features.

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“…This fact may lead to most interesting studies in future. Patients who are haploinsufficient for the IGF-IR gene because of an aneuploidy of chromosome 15 typically are dysmorphic and mentally as well growth retarded (199). However, although the impact of the loss of contiguous genes on chromosome 15 is unclear, a clear gene-dosage effect on somatic growth was suggested in patient 2.…”

Section: Igf-i Resistance Igf-irmentioning

confidence: 99%

Genetic control of growth

Mullis¹

2005

eur j endocrinol

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The application of the powerful tool molecular biology has made it possible to ask questions not only about hormone production and action but also to characterize many of the receptor molecules that initiate responses to the hormones. We are beginning to understand how cells may regulate the expression of genes and how hormones intervene in regulatory processes to adjust the expression of individual genes. In addition, great strides have been made in understanding how individual cells talk to each other through locally released factors to coordinate growth, differentiation, secretion, and other responses within a tissue. In this review I (1) focus on developmental aspects of the pituitary gland, (2) focus on the different components of the growth hormone axis and (3) examine the different altered genes and their related growth factors and/or regulatory systems that play an important physiological and pathophysiological role in growth. Further, as we have already entered the 'post-genomic' area, in which not only a defect at the molecular level becomes important but also its functional impact at the cellular level, I concentrate in the last part on some of the most important aspects of cell biology and secretion.

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Hemizygosity at the insulin-like growth factor I eceptor (IGF1R) locus and growth failure in the ring chromosome 15 syndrome

Cited by 49 publications

References 12 publications

Detection of an unexpected subtelomeric 15q26.2 → qter deletion in a little girl: Clinical and cytogenetic studies

Detection of an unexpected subtelomeric 15q26.2 → qter deletion in a little girl: Clinical and cytogenetic studies

Overgrowth and trisomy 15q26.1-qter including the IGF1 receptor gene: report of two families and review of the literature

Genetic control of growth

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