Germinal mosaicism in Noonan syndrome: A family with two affected siblings of normal parents.
Am J Med Genet A
; 152A(11): 2850-3, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-20979190
ABSTRACT
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%.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Pais
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Irmãos
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Mosaicismo
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Síndrome de Noonan
Limite:
Adult
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Child, preschool
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Female
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Humans
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Infant
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Male
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Middle aged
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Newborn
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Pregnancy
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Marrocos