Growth and skeletal development in families with NOGGIN gene mutations

Oxley, C.D., Rashid, R., Goudie, D.R., Stranks, G., Baty, D.U., Lam, W., Kelnar, C.J. and Ahmed, S.F. (2008) Growth and skeletal development in families with NOGGIN gene mutations. Hormone Research, 69(4), pp. 221-226. (doi: 10.1159/000113022)

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Abstract

Introduction: There is a scarcity of data on height as well as bone densitometry in humans with NOGGIN mutations. Methods: In 2 families with symphalangism, anthropometry, bone densitometry and genetic analysis of the NOGGIN gene were performed. Results: In family A, the height standard deviation scores of the affected father and son were –0.4 and 3.5, respectively. In family B, the height standard deviation scores of the affected father, twin daughters and another daughter were 1.7, 1.8, 2.4 and 1.8, respectively. In the children, percentage predicted bone mineral content (BMC) for height at the appendicular sites (total femur, femoral neck) was lower than at an axial site lumbar spine. In the 2 fathers, median bone mineral density at total femur and femoral neck was –0.3 standard deviation scores (–0.7, 0.2) and at lumbar spine the scores were –0.4 and 0.9. The children had median tibial and radial speed of sound velocities of –2.1 (–0.9 to –6.4) and –1.4 (–0.2 to –4.9), respectively. DNA analysis revealed a novel missense mutation in family A and family B, resulting in a Met190Val substitution and a Pro42Arg substitution, respectively. Conclusion: Heterozygous gene mutations in NOGGIN are associated with tall stature in children but not necessarily in adults. The appendicular BMC and speed of sound may be low in affected children but normalises by adulthood. However, axial BMC seems normal in childhood and is high in adulthood.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Rashid, Dr Rajeeb and Ahmed, Professor Syed Faisal
Authors: Oxley, C.D., Rashid, R., Goudie, D.R., Stranks, G., Baty, D.U., Lam, W., Kelnar, C.J., and Ahmed, S.F.
College/School:College of Medical Veterinary and Life Sciences
Journal Name:Hormone Research
Journal Abbr.:Horm. Res.
ISSN:0301-0163
ISSN (Online):1423–0046
Published Online:21 January 2008

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