Novel Sonic Hedgehog Mutation in a Couple with Variable Expression of Holoprosencephaly
| Autor: | I. Llano, S. Kofman Alfaro, Juan Carlos Zenteno, M. Aguinaga |
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| Rok vydání: | 2011 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities Pathology medicine.medical_specialty lcsh:QH426-470 biology business.industry Nonsense mutation Case Report General Medicine medicine.disease Hypoplasia Variable Expression lcsh:Genetics Holoprosencephaly Forebrain medicine biology.protein Family history Sonic hedgehog Median cleft lip business |
| Zdroj: | Case Reports in Genetics Case Reports in Genetics, Vol 2011 (2011) |
| ISSN: | 2090-6552 2090-6544 |
| DOI: | 10.1155/2011/703497 |
| Popis: | Holoprosencephaly (HPE) is the most common developmental defect of the forebrain and midface in humans. sporadic and inherited mutations in the human sonic hedgehog (SHH) gene cause 37% of familial HPE. A couple was referred to our unit with a family history of two spontaneous first trimester miscarriages and a daughter with HPE who presented early neonatal death. The father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate. Intelligence and a brain CT scan were normal. Direct paternal sequencing analysis showed a novel nonsense mutation (W127X). Facial characteristics are considered as HPE microforms, and the pedigree suggested autosomal dominant inheritance with a variable expression of the phenotype. This study reinforces the importance of an exhaustive evaluation of couples with a history of miscarriages and neonatal deaths with structural defects. |
| Databáze: | OpenAIRE |
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