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Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

ABSTRACT: Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the presence of a congenital heart defect (CHD) was observed. Here, we report an affected male fetus with a hemizygous de novo mutation in OFD1 (c.2101C>T; p.(Gln701*)). Ultrasound examination demonstrated severe hydrocephalus, a hypoplastic cerebellum and a hypoplastic left ventricle of the heart. The pregnancy was terminated at 16 weeks of gestation because of poor prognosis. Post-mortem examination of the fetus confirmed severe hypoplasia of the left ventricle of the heart. We emphasize that CHDs should be included in the phenotypic spectrum of OFD1 in males. This justifies molecular analysis of OFD1 when CHD is encountered prenatally in combination with one or more phenotypic features previously described in the OFD1 gene alteration spectrum. The underlying pathogenesis of CHD in OFD1 (and other ciliopathies) probably involves dysfunction of the primary cilia regarding coordination of left-right signalling during early heart development. Whether these CHDs wholly or partly result from defective left right signalling, in which different types of cilia are known to play a critical role, remains a topic of research.

SUBMITTER: Bouman A

PROVIDER: S-EPMC5413846 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Bouman Arjan A Alders Mariëlle M Oostra Roelof Jan RJ van Leeuwen Elisabeth E Thuijs Nikki N van der Kevie-Kersemaekers Anne-Marie AM van Maarle Merel M

American journal of medical genetics. Part A 20170403 5

Oral-facial-digital syndrome type 1 (OFD1; OMIM# 311200) is an X-linked dominant ciliopathy caused by mutations in the OFD1 gene. This condition is characterized by facial anomalies and abnormalities of oral tissues, digits, brain, and kidneys. Almost all affected patients are female, as OFD1 is presumed to be lethal in males, mostly in the first or second trimester of pregnancy. Live born males with OFD1 are a rare occurrence, with only five reported patients to date. In four patients the prese ...[more]

PMID: 28371265

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Project description:BACKGROUND:Children with congenital heart defects (CHD) are reported to have poorer oral health compared with healthy children. The aim of the present study was to evaluate the effectiveness of an intensive oral health care program among children with CHD followed from infancy to the age of 5 years, by comparing their oral health status at 5 years with a control group of children with CHD who had not received the program. METHODS:In this longitudinal study, children in western Norway with a need for lifelong follow-up due to congenital heart defects were invited to participate (n?=?119). Children born in 2008-2011 were offered an oral health intervention program from infancy to the age of 5 years. The outcome measures for evaluating the intervention were dental caries prevalence, dental erosion, plaque index and gingival bleeding index. The data of the intervention group were compared with cross sectional oral health data of 5 year old controls with CHD born 2005-2007 (already published). RESULTS:Early oral health intervention did not affect the prevalence of caries (25.3% versus 25.4%) or dental erosion (22.2% versus 19.7%) of children with CHD assessed at 5 years. Children in the intervention group were less likely than those in the control group to present with both dental plaque and gingival bleeding at age 5 years. In spite of no difference in caries prevalence between the groups, caries affected children (d1-5mft) in the intervention group had fewer teeth affected by caries than children in the control group (p?=?0.06). The care index was reported to be higher in the intervention group compared with the control group, implying that fewer children in the intervention group suffered from untreated dentine caries. Parents in the intervention group were more likely to brush their children's teeth twice a day than parents of children in the control group. CONCLUSION:The oral health promotive program did not influence the prevalence of caries nor dental erosion. However, the findings indicated better oral hygiene, reduced gingival bleeding and less untreated dentine caries in the intervention compared with the control group. TRIAL REGISTRATION:ClinicalTrials.gov NCT03311438 . Registration date: October 17th 2017, retrospectively registered.

Dataset Information

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

Publications

Oral-facial-digital syndrome type 1 in males: Congenital heart defects are included in its phenotypic spectrum.

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