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Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation.
- Source :
-
European journal of medical genetics [Eur J Med Genet] 2017 Dec; Vol. 60 (12), pp. 695-700. Date of Electronic Publication: 2017 Sep 14. - Publication Year :
- 2017
-
Abstract
- Al-Awadi-Raas-Rothschild syndrome (AARRS; OMIM 276820) is a very rare autosomal recessive limb malformation syndrome caused by WNT7A mutations. AARRS is characterized by various degrees of limb aplasia and hypoplasia. Normal intelligence and malformations of urogenital system are frequent findings. Complete loss of WNT7A function has been shown to cause AARRS, however, its partial loss leads to the milder malformation, Fuhrmann syndrome. An Indian boy affected with AARRS is reported. A novel homozygous base substitution mutation c.550A > C (p.Asn184Asp) is identified in the patient. Parents were heterozygous for the mutation. In addition to the typical features of AARRS, the patient had agenesis of the mandibular left deciduous lateral incisor. The heterozygous parents had microdontia of the maxillary left permanent third molar and taurodontism (enlarged dental pulp chamber at the expense of root) in a number of their permanent molars. Whole exome sequencing of the patient and his parents ruled out mutations in 11 known hypodontia-associated genes including WNT10A, MSX1, EDA, EDAR, EDARADD, PAX9, AXIN2, GREM2, NEMO, KRT17, and TFAP2B. In situ hybridization during tooth development showed Wnt7a expression in wild-type tooth epithelium at E14.5. All lines of evidence suggest that WNT7A has important role in tooth development and its mutation may lead to tooth agenesis, microdontia, and taurodontism. Oral examination of patients with AARRS and Fuhrmann syndromes is highly recommended.<br /> (Copyright © 2017 Elsevier Masson SAS. All rights reserved.)
- Subjects :
- Adult
Amenorrhea diagnosis
Animals
Child, Preschool
Ectromelia diagnosis
Epithelium metabolism
Homozygote
Humans
Male
Mice
Pedigree
Tooth Abnormalities diagnosis
Amenorrhea genetics
Ectromelia genetics
Mutation, Missense
Pelvic Bones abnormalities
Tooth Abnormalities genetics
Uterus abnormalities
Wnt Proteins genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1878-0849
- Volume :
- 60
- Issue :
- 12
- Database :
- MEDLINE
- Journal :
- European journal of medical genetics
- Publication Type :
- Academic Journal
- Accession number :
- 28917830
- Full Text :
- https://doi.org/10.1016/j.ejmg.2017.09.005