In:
American Journal of Medical Genetics Part A, Wiley, Vol. 173, No. 11 ( 2017-11), p. 2968-2972
Abstract:
Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10–20% of patients with NS. Different genotype–phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C 〉 G, p.Pro1045Arg. Ten family members with NS are included with genetically confirmed mutation and clinical evaluation. The phenotype shows a broad spectrum from only few suggestive features for NS in the older generation to typical features in the youngest generation. We report on a novel pathogenic mutation in the SOS1 gene and a large clinical spectrum in a NS family with ten genetically confirmed affected individuals.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v173.11
DOI:
10.1002/ajmg.a.38466
Language:
English
Publisher:
Wiley
Publication Date:
2017
detail.hit.zdb_id:
1493479-6
SSG:
12
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