| Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation. | |
| | |
MedLine Citation:
|
PMID: 20503332 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
|
We report on a father and son with facioaudiosymphalangism syndrome, an alternative designation for multiple synostoses syndrome, type I. This syndrome includes synostosis, brachydactyly, craniofacial dysmorphic features, stapes fixation, hyperopia, and growth retardation. In contrast to the typical presentation, the height of the 10-year-old son was above the 97th centile from the age of 3.5 years and he had markers of an activated bone metabolism. The father and son had a novel heterozygous missense mutation c.696C > G, p.Cys232Trp, in the NOG gene. While not yet described in human NOG-related disorders, there is experimental evidence that suppression of noggin might accelerate osteogenesis, which could explain the phenotype in the family reported here. |
| | |
Authors:
|
Sabine Rudnik-Schöneborn; Tsutomu Takahashi; Sabine Busse; Thorsten Schmidt; Jan Senderek; Thomas Eggermann; Klaus Zerres |
Publication Detail:
|
Type: Case Reports; Journal Article |
Journal Detail:
|
Title: American journal of medical genetics. Part A Volume: 152A ISSN: 1552-4833 ISO Abbreviation: Am. J. Med. Genet. A Publication Date: 2010 Jun |
Date Detail:
|
Created Date: 2010-05-26 Completed Date: 2010-08-30 Revised Date: 2010-09-28 |
Medline Journal Info:
|
Nlm Unique ID: 101235741 Medline TA: Am J Med Genet A Country: United States |
Other Details:
|
Languages: eng Pagination: 1540-4 Citation Subset: IM |
Copyright Information:
|
(c) 2010 Wiley-Liss, Inc. |
Affiliation:
|
Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany. srudnik-schoeneborn@ukaachen.de |
Export Citation:
|
APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
|
Carrier Proteins
/
genetics* Child Craniofacial Abnormalities / genetics* Finger Phalanges / abnormalities*, radiography Growth Disorders / genetics* Heterozygote Humans Male Mutation, Missense Pedigree Syndrome Synostosis / genetics*, radiography Young Adult |
| Chemical | |
Reg. No./Substance:
|
0/Carrier Proteins; 148294-77-3/noggin protein |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
Previous Document: Kabuki syndrome and cancer in two patients.
Next Document: Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypogly...