Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation

© 2017 Elsevier Masson SAS 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 sys...

Full description

Saved in:
Bibliographic Details
Main Authors: Piranit Nik Kantaputra, Seema Kapoor, Prashant Verma, Massupa Kaewgahya, Katsushige Kawasaki, Atsushi Ohazama, James R. Ketudat Cairns
Format: Journal
Published: 2018
Subjects:
Online Access:https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85029545835&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/46334
Tags: Add Tag
No Tags, Be the first to tag this record!
Institution: Chiang Mai University
id th-cmuir.6653943832-46334
record_format dspace
spelling th-cmuir.6653943832-463342018-04-25T07:35:33Z Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation Piranit Nik Kantaputra Seema Kapoor Prashant Verma Massupa Kaewgahya Katsushige Kawasaki Atsushi Ohazama James R. Ketudat Cairns Agricultural and Biological Sciences Arts and Humanities © 2017 Elsevier Masson SAS 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. 2018-04-25T06:52:57Z 2018-04-25T06:52:57Z 2017-12-01 Journal 18780849 17697212 2-s2.0-85029545835 10.1016/j.ejmg.2017.09.005 https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85029545835&origin=inward http://cmuir.cmu.ac.th/jspui/handle/6653943832/46334
institution Chiang Mai University
building Chiang Mai University Library
country Thailand
collection CMU Intellectual Repository
topic Agricultural and Biological Sciences
Arts and Humanities
spellingShingle Agricultural and Biological Sciences
Arts and Humanities
Piranit Nik Kantaputra
Seema Kapoor
Prashant Verma
Massupa Kaewgahya
Katsushige Kawasaki
Atsushi Ohazama
James R. Ketudat Cairns
Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
description © 2017 Elsevier Masson SAS 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.
format Journal
author Piranit Nik Kantaputra
Seema Kapoor
Prashant Verma
Massupa Kaewgahya
Katsushige Kawasaki
Atsushi Ohazama
James R. Ketudat Cairns
author_facet Piranit Nik Kantaputra
Seema Kapoor
Prashant Verma
Massupa Kaewgahya
Katsushige Kawasaki
Atsushi Ohazama
James R. Ketudat Cairns
author_sort Piranit Nik Kantaputra
title Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
title_short Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
title_full Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
title_fullStr Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
title_full_unstemmed Al-Awadi-Raas-Rothschild syndrome with dental anomalies and a novel WNT7A mutation
title_sort al-awadi-raas-rothschild syndrome with dental anomalies and a novel wnt7a mutation
publishDate 2018
url https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85029545835&origin=inward
http://cmuir.cmu.ac.th/jspui/handle/6653943832/46334
_version_ 1681422855096500224