European Journal of Medical Genetics 56 (2013) 442e444

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European Journal of Medical Genetics

journal homepage: http://www.elsevier.com/locate/ejmg

Short clinical report

Inhabitual autosomal recessive form of dentin dysplasia type I in a

large consanguineous Moroccan family
I. Cherkaoui Jaouad a, b, *,1, M. El Alloussi c,1, F.Z. Laarabi a, b, A. Bouhouche a, R. Ameziane c,
A. Seani a, b
a
b
c

Centre de Gnomique Humaine, Facult de Mdecine et de Pharmacie, Universit Mohammed V Souissi, Rabat, Morocco
Dpartement de Gntique Mdicale, Institut National dHygine, Rabat, Morocco
Service dodontologie pdiatrique, Facult de mdecine dentaire, Universit Mohammed V Souissi, Rabat, Morocco

a r t i c l e i n f o

a b s t r a c t

Article history:
Received 26 February 2012
Accepted 12 May 2013
Available online 24 May 2013

Dentin dysplasia is a rare autosomal dominant genetic disease characterized by defect of dentin
development and the causal gene is DSPP (Dentin Sialophosphoprotein gene). We report in the present
study a large Moroccan family in which dentin dysplasia is clearly transmitted as an autosomal recessive
trait. Four males and females family members born from healthy consanguineous parents are carriers of
the typical features of the dentin dysplasia type I. Polymorphic markers that span the DSPP gene, allowed
us to show that this locus is not linked to dentin dysplasia in our family. We also excluded in our family
the SMOC2 gene (Sparc Related Modular Calcium Binding Protein 2) which was recently identied as a
causal gene in dentin dysplasia type I with microdontia and misshapen teeth.
This family represents, a new description of autosomal recessive pattern of inheritance of dentin
dysplasia type I. Moreover, this form of dentin dysplasia is not allelic to the autosomal dominant dentin
dysplasia and the genetic cause is to be discovered.
2013 Elsevier Masson SAS. All rights reserved.

Keywords:
Autosomal recessive transmission
Dentin dysplasia
DSPP

1. Introduction
Dentin dysplasia is a hereditary disturbance in dentine formation, which may present with either mobile teeth or pain associated
with spontaneous dental abscesses or cysts. It is marked by a
normal appearance of coronal dentin associated with pulpal
obliteration, faulty root formation, and a tendency for peripheral
alveolar bone lesions without obvious cause. The prevalence is 1/
100 000 [1]. By the Shields classication, dentin dysplasia is divided
into 2 types [2]. DD type I affects the radicular dentin; the primary
and permanent dentition are affected. It presents with normal
crowns of regular or slightly amber translucency, abnormal spaces
between the teeth, malposition and severe teeth mobility. Teeth
can be lost prematurely through spontaneous exfoliation related to
the lack of root formation. Radiographically, the teeth are characterized by pulpal obliteration and short blunted roots. Periapical
radiolucency may be present at the apices of affected teeth. DD type

* Corresponding author. Department of Medical Genetics, National Institute of

Health, 27, Avenue Ibn Battouta, B.P. 769 Rabat, Morocco. Tel.: 212 (0) 537 7719 02;
fax: 212 (0) 537 77 20 67.
E-mail address: imane_cj@yahoo.fr (I. Cherkaoui Jaouad).
1
These two authors contributed equally to this work.
1769-7212/$ e see front matter 2013 Elsevier Masson SAS. All rights reserved.
http://dx.doi.org/10.1016/j.ejmg.2013.05.003

II affects the coronal dentin. It is characterized by primary teeth

with complete pulpal obliteration and brown or amber bluish
coloration similar to that seen in hereditary opalescent dentin. The
permanent teeth have a normal appearance or a slight amber
coloration; the roots are normal in size and shape with a thistletube-shaped pulp chamber with pulp stones.
Dentin dysplasia (DD) and Dentinogenesis imperfecta (DGII) are
allelic disorders which are autosomal dominant and can be caused
by mutations in the dentin sialophospho-protein gene (DSPP,
4q21.3). Defects in DSPP gene can cause Dentinogenesis imperfecta
type II [3e5], Dentinogenesis imperfecta type III [6,7], and DD-II [8].
At the end of 2011, Bloch-Zupan et al. [9] identied homozygoty
for a splice site mutation in the candidate gene SMOC2 (Sparc
Related Modular Calcium Binding Protein 2) in 2 affected rst
cousins from a consanguineous Turkish pedigree with a form of
type I dentin dysplasia associated with extreme microdontia and
misshapen teeth and mapping to chromosome 6q27-qter.
In this study, we identied and characterized a Moroccan family
with DD type I with 4 affected individuals born from a consanguineous parents. An autosomal recessive mode of inheritance is
suggested by the consanguinity of the healthy parents who had
affected sons and daughters. This observation represents, in our
knowledge, the rst description of autosomal recessive case of DD.

I. Cherkaoui Jaouad et al. / European Journal of Medical Genetics 56 (2013) 442e444

Fig. 1. Pedigree of the family.

443

We studied DSPP as a candidate gene for dentin dysplasia type I in

affected subjects, their parents and the healthy sibs. Three polymorphic microsatellite markers, D4S414, D4S1534 and D4S1572
that span the DSPP gene, were selected from the ABI PRISM linkage
mapping set version 2.5 from Applied Biosystems. The markers were
PCR amplied according to the manufacturers instructions and PCR
products of each panel were then pooled, combined in a tube with
GeneScan 500LIZ size standard, and loaded in an automated capillary DNA sequencer ABI 310. Data were collected and analyzed using
the ABI GENESCAN (version 2.1) and GENOTYPER (version 2.0)
software (Applied Biosystems, Foster City, CA). Haplotype reconstruction did not show homozygosity in the four patients for these
three markers, excluding the DSPP gene to be responsible of the
disease in the studied family. Moreover the SMOC2, recently reported as a causal gene in type I dentin dysplasia associated with
extreme microdontia and misshapen teeth, was excluded in our
family by a complete analysis of SMOC2 coding regions by bidirectional sequencing. The exclusion of the SMOC2 gene was also
supported by the fact that patients were also heterozygote and
didnt carry the same genotypes for different SNP in the SMOC2
coding regions.
3. Discussion

2. Family study
Two brothers (III-1, III-3; Fig. 1), 10 and 6 years old, with a history
of dentin dysplasia type I but no other serious diseases, were
referred to the department of pediatric dentistry for dental treatment. These two patients have early loss of primary teeth which
leads to a prematurely loose of the primary teeth with severe teeth
mobility and alveolar cysts.
The First cousins who are born from consanguineous parents
suffered from the same disease (III-6 III-7; Fig. 1).
The clinical examination of the patient revealed a subtotal
edentation with a mobility of the residual teeth (Fig. 2).
The radiographs showed features characteristic of dentin
dysplasia type I with normal appearance of the crown but with
short root of all the teeth and periapical cysts (Fig. 3). The dental
examination of the parents was normal. The pedigree (Fig. 1) and
the family history suggest autosomal recessive transmission of this
disease.
The patients were enrolled in the department of pediatric
dentistry of the university Mohammed V Souissi (Rabat, Morocco)
and referred to the department of medical genetics in Rabat.
Detailed records on medical history, clinical and radiographic features were obtained. Informed written consent was obtained from
the study subjects. Peripheral blood was collected from the subjects. Human genomic DNA was isolated from the whole blood
using the extraction methods sels.

Fig. 2. Oral photographs from the affected individual III-1, 10 years old.

Dentin dysplasia is a defect of dentin development that is

inherited as an autosomal dominant trait, that affects one in every
100 000 individuals [1] and manifests in both primary and permanent dentitions. Shields et al. [2] subclassied the condition into
two groups; DD type I affects the radicular dentin; the primary and
permanent dentition are affected, DD type II affects the coronal
dentin. Ciola et al. [10] proposed an extension of this classication
to include a third group of dentinal dysplasia. Dentin dysplasia type
III includes a combination of teeth of type I and type II in the same
patient.
Dentin dysplasia type I should be differentiated from dentin
dysplasia type II, dentinogenesis imperfecta and odontodysplasia.
In our patients, rootless teeth, periapical radiolucent areas, pulp
obliteration, absence of taurodontism are characteristic ndings for
the diagnosis of DD type I. Some radiographic features occur in
other disorders such as calcinosis, EhlerseDanlos syndrome, and
the brachioskeletogenital syndrome [11]. Some association has also
been reported between dentin dysplasia and osseous changes in
addition to sclerotic bone formation [1] but our patient had no signs
of other pathologic conditions.
Other causes of early loss of teeth include: hypophosphatasia,
immunological deciencies (severe congenital neutropenia, cyclic
neutropenia, ChediakeHegashi syndrome, neutropenias, histiocytosis X, PapilloneLefevre syndrome and leukocyte adhesion deciency syndrome) [12]. All of these conditions have an underlying
immunological defect with the exception of hypophosphatasia.
These causes were eliminated in our patients.
Different mutations of DSPP gene were reported in autosomal
dominant forms of dentin dysplasia [13,14], several mutations in
this gene that correlate with both DGII and DD phenotypes were
identied. The autosomal recessive form has never been described
in our knowledge, except the SMOC2 gene recently associated to DD
type I in one family with major microdontia, oligodontia, and shape
abnormalities [9].
In this study, we identied and characterized a Moroccan family
with DD type I, transmitted as an autosomal recessive trait. Polymorphic markers that span the DSPP gene, allowed us to show that
the disease in this family is not linked to DSPP locus. Therefore, the
hypothesis that dentin dysplasia type I is allelic to the autosomal
dominant dentin dysplasia was excluded. Moreover, no mutation
was identied in the SMOC2 gene in our family.

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I. Cherkaoui Jaouad et al. / European Journal of Medical Genetics 56 (2013) 442e444

Fig. 3. A: Panoramic radiograph from an affected individual (III-1) showing a subtotal edentation and short roots. B: Retroalveolar X-ray showing short roots and pulpal obliteration
in the teeth 65, 26, 16 and 46, with an intrapulpal calcication, partial in the 36 tooth and total in the 46 tooth, and a periapical radiolucency in the 65 tooth.

Further investigations are necessary to identify a new gene for

autosomal recessive form of dentin dysplasia. The localization and
identication of the gene involved in this family should open the
eld for the molecular study of many other dentin dysplasia.
Competing interest
The authors declare that they have no competing interests.
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