| LADD syndrome is caused by FGF10 mutations. | |
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MedLine Citation:
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PMID: 16630169 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lacrimo-auriculo-dento-digital syndrome [LADD (MIM 149730)] is an autosomal-dominant multiple congenital anomaly disorder characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies. Loss of function mutations in FGF10 were recently described in aplasia of the lacrimal and salivary glands [ALSG (MIM 180920; MIM 103420)] (Entesarian et al., Nat Genet 2005: 37: 125-127, Milunsky et al., American College of Medical Genetics Annual Meeting, Dallas, TX, 2005: A100). Due to the significant phenotypic overlap between LADD syndrome and ALSG and the variable expressivity of both the disorders, we hypothesized that FGF10 mutations could also result in LADD syndrome. A de novo missense mutation was found in exon 3 of FGF10 in a 3-year-old female (Family 1) with LADD syndrome. This missense mutation, resulting in a non-conservative amino acid change, was confirmed by restriction enzyme digestion and was not found in 500 control chromosomes. A nonsense mutation was also found in exon 2 of FGF10 (Family 2) in a 19-year-old mother with ALSG and her 2-year-old daughter with LADD syndrome. Previous studies of FGF10 mutant mice have demonstrated abnormalities consistent with ALSG and LADD syndrome. We conclude that ALSG and LADD syndrome may represent variable presentations of the same clinical spectrum caused by FGF10 mutations. |
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Authors:
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J M Milunsky; G Zhao; T A Maher; R Colby; D B Everman |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: Clinical genetics Volume: 69 ISSN: 0009-9163 ISO Abbreviation: Clin. Genet. Publication Date: 2006 Apr |
Date Detail:
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Created Date: 2006-04-24 Completed Date: 2006-06-28 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0253664 Medline TA: Clin Genet Country: Denmark |
Other Details:
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Languages: eng Pagination: 349-54 Citation Subset: IM |
Affiliation:
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Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA. jmilunsk@bu.edu |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Base Sequence Child, Preschool Ear, External / abnormalities* Female Fibroblast Growth Factor 10 / genetics*, metabolism Humans Lacrimal Apparatus / abnormalities* Molecular Sequence Data Mutation* Polymorphism, Single Nucleotide Salivary Glands / abnormalities* Syndrome Tooth Abnormalities / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Fibroblast Growth Factor 10 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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