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LADD syndrome is caused by FGF10 mutations.
Clin Genet. 2006 Apr; 69(4):349-54.CG

Abstract

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.

Authors+Show Affiliations

Center for Human Genetics, Boston University School of Medicine, Boston, MA, USA. jmilunsk@bu.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16630169

Citation

Milunsky, J M., et al. "LADD Syndrome Is Caused By FGF10 Mutations." Clinical Genetics, vol. 69, no. 4, 2006, pp. 349-54.
Milunsky JM, Zhao G, Maher TA, et al. LADD syndrome is caused by FGF10 mutations. Clin Genet. 2006;69(4):349-54.
Milunsky, J. M., Zhao, G., Maher, T. A., Colby, R., & Everman, D. B. (2006). LADD syndrome is caused by FGF10 mutations. Clinical Genetics, 69(4), 349-54.
Milunsky JM, et al. LADD Syndrome Is Caused By FGF10 Mutations. Clin Genet. 2006;69(4):349-54. PubMed PMID: 16630169.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - LADD syndrome is caused by FGF10 mutations. AU - Milunsky,J M, AU - Zhao,G, AU - Maher,T A, AU - Colby,R, AU - Everman,D B, PY - 2006/4/25/pubmed PY - 2006/6/29/medline PY - 2006/4/25/entrez SP - 349 EP - 54 JF - Clinical genetics JO - Clin Genet VL - 69 IS - 4 N2 - 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. SN - 0009-9163 UR - https://www.unboundmedicine.com/medline/citation/16630169/LADD_syndrome_is_caused_by_FGF10_mutations_ L2 - https://doi.org/10.1111/j.1399-0004.2006.00597.x DB - PRIME DP - Unbound Medicine ER -