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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Lopez, Estelle Callier, Patrick Cormier-Daire, Valérie Lacombe, Didier Moncla, Anne Bottani, Armand Lambert, Sandy Goldenberg, Alice Doray, Bérénice Odent, Sylvie Sanlaville, Damien Gueneau, Lucie Duplomb, Laurence Huet, Frédéric Aral, Bernard Thauvin-Robinet, Christel Faivre, Laurence |
| Description | Country affiliation: France Author Affiliation: Lopez E ( Equipe GAD, IFR Santé-STIC, Université de Bourgogne, Dijon, France.) |
| Abstract | Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsufficiency of one of the 19 genes or predictions located in the deletion found in our index patient. Since none of them appeared to be good candidate gene by their function, a high-throughput sequencing approach of the region of interest was used in eight FHS patients. No pathogenic mutation was found in these patients. This approach failed to identify the gene responsible for FHS, and this can be explained by at least four reasons: (i) our index patient could be a phenocopy of FHS; (ii) the disease may be clinically heterogeneous (since the diagnosis relies exclusively on clinical features), (iii) these could be genetic heterogeneity of the disease, (iv) the patient could carry a mutation in a gene located elsewhere. Recent descriptions of patients with 12q15-q21.1 microdeletions argue in favor of the phenocopy hypothesis. |
| File Format | HTM / HTML |
| ISSN | 15524825 |
| Issue Number | 2 |
| Volume Number | 158A |
| e-ISSN | 15524833 |
| Journal | American Journal of Medical Genetics Part A |
| Language | English |
| Publisher | Wiley-Blackwell |
| Publisher Date | 2012-02-01 |
| Publisher Place | United States |
| Access Restriction | One Nation One Subscription (ONOS) |
| Subject Keyword | Discipline Human Discipline Genetics Abnormalities, Multiple Genetics Pathology Chromosomes, Human, Pair 12 Craniofacial Abnormalities Growth Disorders Heart Septal Defects, Ventricular Sequence Deletion Adult Child Child, Preschool Comparative Genomic Hybridization Methods Female Genetic Predisposition To Disease Haploinsufficiency High-throughput Nucleotide Sequencing Humans Male Phenotype Journal Article Research Support, Non-u.s. Gov't |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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