Display Settings:

Format

Send to:

Choose Destination
Horm Res. 2008;69(4):221-6. doi: 10.1159/000113022. Epub 2008 Jan 21.

Growth and skeletal development in families with NOGGIN gene mutations.

Author information

  • 1Department of Paediatric Endocrinology, Royal Hospital for Sick Children, Edinburgh, UK.

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.

(c) 2008 S. Karger AG, Basel

PMID:
18204269
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Icon for S. Karger AG, Basel, Switzerland
    Loading ...
    Write to the Help Desk