Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment

Janiszewska‐Olszowska, Joanna; Gawrych, Elżbieta; Dydyk, Aldona; Studniak, Ewa; Biaduń-Popławska, Anna; Zajączek, Stanisław

doi:10.1016/j.jcms.2012.06.002

Cited by 6 publications

(4 citation statements)

References 16 publications

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“…Proposed new syndrome Rifai et al ( 2010 ) 4p16.3 Case report/series 1 CP OD Unclear The patient is affected by Wolf–Hirschhorn syndrome (OMIM# 194190) Maas et al ( 2008 ) 8q24 Case–control/Family-based study 31 OFCs TA Outside The locus contains an SNP (rs987525) significantly associated with OFCs and TA Yildirim et al ( 2012 ) 16q22 Case report/series 4 CP OD Inside and outside All the patients belong to the same family. Three of them present a fragile site in 16q22 Bettex et al ( 1998 ) Case report/series 1 CP HD Outside The patient, affected by oropalatal Bettex–Graf dysplasia, showed a fragile site in 16q22 Janiszewska-Olszowska et al ( 2013 ) Case report/series 1 CP OD Outside The patient shows a fragile site in 16q22 and features similar to those of Bettex–Graf dysplasia McKenzie et al ( 2002 ) OFCs orofacial clefts, CL/P cleft lip with or without cleft palate, CL cleft lip, TA tooth agenesis, HD hypodontia, OD oligodontia …”

Section: Resultsmentioning

confidence: 99%

“…Another 3.7 Mb deletion affecting the locus 4p16.3 was described by Maas et al ( 2008 ) in a patient with Wolf–Hirschhorn syndrome (OMIM# 194190) exhibiting CP and TA along with intellectual disability, microcephaly at birth and other abnormalities (Table 4 ; Supplementary Table 6). Three studies reported on patients with oropalatal Bettex–Graf dysplasia, combining CP and HD or OD with a fragile site located in the region 16q22 (Table 4 ; Supplementary Table 6) (Bettex et al 1998 ; Janiszewska-Olszowska et al 2013 ; McKenzie et al 2002 ).…”

Section: Resultsmentioning

confidence: 99%

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Tooth agenesis and orofacial clefting: genetic brothers in arms?

et al. 2016

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Tooth agenesis and orofacial clefts represent the most common developmental anomalies and their co-occurrence is often reported in patients as well in animal models. The aim of the present systematic review is to thoroughly investigate the current literature (PubMed, EMBASE) to identify the genes and genomic loci contributing to syndromic or non-syndromic co-occurrence of tooth agenesis and orofacial clefts, to gain insight into the molecular mechanisms underlying their dual involvement in the development of teeth and facial primordia. Altogether, 84 articles including phenotype and genotype description provided 9 genomic loci and 26 gene candidates underlying the co-occurrence of the two congenital defects: MSX1, PAX9, IRF6, TP63, KMT2D, KDM6A, SATB2, TBX22, TGFα, TGFβ3, TGFβR1, TGFβR2, FGF8, FGFR1, KISS1R, WNT3, WNT5A, CDH1, CHD7, AXIN2, TWIST1, BCOR, OFD1, PTCH1, PITX2, and PVRL1. The molecular pathways, cellular functions, tissue-specific expression and disease association were investigated using publicly accessible databases (EntrezGene, UniProt, OMIM). The Gene Ontology terms of the biological processes mediated by the candidate genes were used to cluster them using the GOTermMapper (Lewis-Sigler Institute, Princeton University), speculating on six super-clusters: (a) anatomical development, (b) cell division, growth and motility, (c) cell metabolism and catabolism, (d) cell transport, (e) cell structure organization and (f) organ/system-specific processes. This review aims to increase the knowledge on the mechanisms underlying the co-occurrence of tooth agenesis and orofacial clefts, to pave the way for improving targeted (prenatal) molecular diagnosis and finally to reflect on therapeutic or ultimately preventive strategies for these disabling conditions in the future.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-016-1733-z) contains supplementary material, which is available to authorized users.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Tooth agenesis and orofacial clefting: genetic brothers in arms?

et al. 2016

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“…However, later it was demonstrated that this fragile site is distal from the haptoglobin gene whose deficiency is linked to IgA deficiency, suggesting that the IgA condition in the propositus was likely a coincidence (Simmers et al 1986). Fragility at 16q22 has since been implicated in a wide spectrum of neurological disorders (Demirhan et al 2006; Kerbeshian et al 2000) as well as in other conditions such as neutropenia (Glasser et al 2006; Tassano et al 2010) and cleft palate (Bettex et al 1998; Dunner et al 1983; Janiszewska-Olszowska et al 2013; McKenzie et al 2002). A recent study also reported elevated fragile site formation at 16q22.1 in an embryo from a couple who had difficulty achieving pregnancy and in the sperm from the father (Martorell et al 2014).…”

Section: 2 Early History Of Chromosome Fragile Site Discoveries Rementioning

confidence: 99%

Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites

Feng

Chakraborty

2017

Advances in Experimental Medicine and Biology

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Chromosome fragile sites are a fascinating cytogenetic phenomenon now widely implicated in a slew of human diseases ranging from neurological disorders to cancer. Yet, the paths leading to these revelations were far from direct, and the number of fragile sites that have been molecularly cloned with known disease-associated genes remains modest. Moreover, as more fragile sites were being discovered, research interests in some of the earliest discovered fragile sites ebbed away, leaving a number of unsolved mysteries in chromosome biology. In this review we attempt to recount some of the early discoveries of fragile sites and highlight those phenomena that have eluded intense scrutiny but remain extremely relevant in our understanding of the mechanisms of chromosome fragility. We then survey the literature for disease association for a comprehensive list of fragile sites. We also review recent studies addressing the underlying cause of chromosome fragility while highlighting some ongoing debates. We report an observed enrichment for R-loop forming sequences in fragile site-associated genes than genomic average. Finally, we will leave the reader with some lingering questions to provoke discussion and inspire further scientific inquiries.

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“…It is likely that mild forms of shortened frenulum self-correct with tongue growth between 6 months and 6 years of age, explaining this discordance. Ankyloglossia most often occurs as an isolated defect, although rare, and it can also coexist with other congenital craniofacial defects, such as cleft lip, and syndromes, including Smith-Lemli-Opitz, Beckwith-Weidmann, Simpson-Golabi-Behmel, Kindler, van der Woude syndrome and X-linked cleft palate, or oropalatal dysplasia Bettex-Graf [9][10][11][12][13][14][15][16][17]. Family history confirming the presence of a short frenulum in 2 of 13 these cases is recorded in 21-41% of cases [4,18].…”

Section: Introductionmentioning

confidence: 99%

Influence of Shortened Tongue Frenulum on Tongue Mobility, Speech and Occlusion

Dydyk,

Milona,

Janiszewska-Olszowska

et al. 2023

JCM

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(1) Background: The incidence of ankyloglossia is 0.02–10.7%. Its effect on selected dysfunctions has been described; however, no studies report its impact on several disorders in a group of subjects. The aim of this study was to assess the effect of ankyloglossia on swallowing, speech, occlusion and periodontium. (2) Methods: The study group consisted of 86 patients with ankyloglossia, and the control group (n = 86) had a normal tongue frenulum. Type of swallowing, tongue mobility, speech, occlusion and periodontium were assessed. (3) Results: Ankyloglossia pertained to 75.6% patients with infantile swallowing and 41.3% patients with mature swallowing. Limited tongue mobility was found in 29.4% subjects with moderate ankyloglossia and 70.6% subjects with severe ankyloglossia. All subjects with mild ankyloglossia and all the controls had normal tongue mobility. The relationship between dysglossia and ankyloglossia severity was statistically significant. Malocclusion or crowding was diagnosed in 62% subjects with ankyloglossia and 21.6% subjects in the control group. No periodontal abnormalities were found in any subject. (4) Conclusions: (1) A short tongue frenulum negatively influences swallowing and is associated with an “infantile swallowing pattern”. (2) Moderate or severe ankyloglossia significantly limits tongue mobility. (3) A short tongue frenulum negatively influences speech. (4) Ankyloglossia is associated with higher prevalence of malocclusion.

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Oro-palatal dysplasia Bettex–Graf – Clinical findings, genetic background, treatment

Cited by 6 publications

References 16 publications

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Tooth agenesis and orofacial clefting: genetic brothers in arms?

Fragility Extraordinaire: Unsolved Mysteries of Chromosome Fragile Sites

Influence of Shortened Tongue Frenulum on Tongue Mobility, Speech and Occlusion

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