Growth and skeletal development in families with NOGGIN gene mutations

Hormone Research
C D OxleyS F Ahmed

Abstract

There is a scarcity of data on height as well as bone densitometry in humans with NOGGIN mutations. In 2 families with symphalangism, anthropometry, bone densitometry and genetic analysis of the NOGGIN gene were performed. 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. Heterozygous gene mutations in NOGGIN are associated with tall stature in children but not necessarily in adults. The appe...Continue Reading

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Citations

Mar 2, 2011·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Henricus G X M ThomeerCor W R J Cremers
Apr 8, 2020·American Journal of Medical Genetics. Part a·Zhaoyu PanYongyi Yuan

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