NDLI: Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

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Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

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Facioaudiosymphalangism syndrome and growth acceleration associated with a heterozygous NOG mutation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Rudnik-Schöneborn, Sabine Takahashi, Tsutomu Busse, Sabine Schmidt, Thorsten Senderek, Jan Eggermann, Thomas Zerres, Klaus
Description	Country affiliation: Germany Author Affiliation: Rudnik-Schöneborn S ( Medical Faculty, Institute of Human Genetics, RWTH Aachen University, Aachen, Germany. srudnik-schoeneborn@ukaachen.de)
Abstract	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.
File Format	HTM / HTML
ISSN	15524825
Issue Number	6
Volume Number	152A
e-ISSN	15524833
Journal	American Journal of Medical Genetics Part A
Language	English
Publisher	Wiley-Blackwell
Publisher Date	2010-06-01
Publisher Place	United States
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	Discipline Human Discipline Genetics Carrier Proteins Genetics Craniofacial Abnormalities Finger Phalanges Abnormalities Growth Disorders Synostosis Child Heterozygote Humans Male Mutation, Missense Pedigree Radiography Syndrome Young Adult Case Reports Journal Article
Content Type	Text
Resource Type	Article Case study
Subject	Genetics Genetics (clinical)

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