Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents
| Autor: | Siham Chafai Elalaoui, Céline Liger, Lilia Kraoua, Abdelaziz Sefiani, Ilham Ratbi, Hélène Cavé |
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| Rok vydání: | 2010 |
| Předmět: |
Adult
Male Parents medicine.medical_specialty Germline mosaicism Protein Tyrosine Phosphatase Non-Receptor Type 11 Biology Short stature Germline Pregnancy Internal medicine Genetics medicine Humans Genetics (clinical) Genetic heterogeneity Mosaicism Siblings Noonan Syndrome Infant Newborn Infant Middle Aged medicine.disease Osteochondrodysplasia Pedigree PTPN11 Endocrinology Haplotypes Child Preschool Mutation (genetic algorithm) Noonan syndrome Female medicine.symptom |
| Zdroj: | American journal of medical genetics. Part A. (11) |
| ISSN: | 1552-4833 |
| Popis: | Noonan syndrome (NS; OMIM 163950) is an autosomal dominant disorder with variable clinical expression and genetic heterogeneity. Clinical manifestations include characteristic facial features, short stature, and cardiac anomalies. Mutations in protein-tyrosine phosphatase, non-receptor-type 11 (PTPN11), encoding SHP-2, account for about half of NS patients. We report on a Moroccan family with two children with NS and apparently unaffected parents. The molecular studies showed the heterozygous mutation c.922A>G of PTPN11 gene in the two affected sibs. Neither the parents, nor the oldest brother carries this mutation in hematologic cells. The mutation was also absent in buccal epithelial cells and fingernails of both parents. We believe this is the first report of germ cell mosaicism in NS and suggest an empirical risk for recurrence of that is less than 1%. |
| Databáze: | OpenAIRE |
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