Genetics and Variation in Phenotype in Noonan Syndrome

Autor: Kees Noordam, Marjolijn C.J. Jongmans, Barto J. Otten, Ineke van der Burgt
Rok vydání: 2004
Předmět:
Adult
Male
musculoskeletal diseases
congenital
hereditary
and neonatal diseases and abnormalities
Guanine
SH2 Domain-Containing Protein Tyrosine Phosphatases
animal structures
Genotype
Endocrinology
Diabetes and Metabolism
Protein Tyrosine Phosphatase
Non-Receptor Type 11
Protein tyrosine phosphatase
Biology
Short stature
src Homology Domains
Cytosine
Exon
Endocrinology
medicine
Humans
Child
skin and connective tissue diseases
Genetics
Endocrinology and reproduction [UMCN 5.2]
Adenine
Noonan Syndrome
Intracellular Signaling Peptides and Proteins
Genetic Variation
Infant
Exons
medicine.disease
PTPN11
Phenotype
Genetic defects of metabolism [UMCN 5.1]
Mutation
Pediatrics
Perinatology and Child Health
Mutation (genetic algorithm)
Mutation testing
Noonan syndrome
Female
Protein Tyrosine Phosphatases
medicine.symptom
Thymine
Zdroj: Hormone Research, 62 Suppl 3, 3, pp. 56-9
Hormone Research, 62 Suppl 3, 56-9
ISSN: 1663-2826
1663-2818
0301-0163
Popis: Noonan syndrome is a well-known clinical entity comprising multiple congenital anomalies characterized by typical facial features, short stature and congenital heart defect. Approximately 50% of cases are sporadic. Familial cases are generally autosomal dominant. In 2001 a gene responsible for Noonan syndrome, PTPN11, encoding for the non-receptor protein tyrosine phosphatase SHP-2, was identified. Mutation analysis of the PTPN11 gene was carried out in Nijmegen in 150 patients with Noonan syndrome. Mutations were found in 68 patients (45%), the most common being A922G in exon 8. In exon 4 a mutation was found that encoded the C-SH2 domain of the PTPN11 gene in two unique patients who shared some uncommon features. A 218C→T mutation was found in exon 3 in one patient with Noonan syndrome and mild juvenile myelomonocytic leukaemia.
Databáze: OpenAIRE
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