Prenatal findings in carpenter syndrome and a novel mutation inRAB23
| Autor: | Christelle Denis, Annie-Laure Suc, Antoine Listrat, Annick Toutain, Corinne Collet, Nathalie Soulé, Damien Haye, Georges Haddad, Catherine Sembely-Taveau |
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| Rok vydání: | 2014 |
| Předmět: |
Adult
musculoskeletal diseases DNA Mutational Analysis Prenatal diagnosis Heart defect Ultrasonography Prenatal Craniosynostosis Pregnancy Prenatal Diagnosis Genetics medicine Humans Four-Dimensional Computed Tomography Genetics (clinical) Fetus business.industry Skull Infant Newborn Facies Cystic hygroma Anatomy Acrocephalosyndactylia musculoskeletal system medicine.disease Carpenter syndrome Alternative Splicing Phenotype rab GTP-Binding Proteins Mutation Acrocephalopolysyndactyly type II Female business |
| Zdroj: | American Journal of Medical Genetics Part A. 164:2926-2930 |
| ISSN: | 1552-4825 |
| DOI: | 10.1002/ajmg.a.36726 |
| Popis: | Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth. Craniosynostosis and preaxial hexadactyly of the feet were retrospectively detectable on the fetal CT scan. Sequencing of RAB23 identified a homozygous mutation leading to skipping of exon 6 and premature termination codon (c.481G>C; p.Val161Leufs*16). This observation illustrates the difficulty of prenatal ultrasound diagnosis of Carpenter syndrome. To our knowledge, this diagnosis was suggested on ultrasound scan in only one prior patient, although in five other patients abnormal skull shape and variable findings, mainly limb anomalies including bowed femora in one case, were described during the pregnancy. Heart defect and bowed femora are rare postnatal findings. The diagnosis of Carpenter syndrome should therefore be considered on prenatal imaging in cases of bowed femora and/or cardiac defect associated with abnormal skull shape. |
| Databáze: | OpenAIRE |
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