<i>MSX1</i> Gene is Deleted in Wolf-Hirschhorn Syndrome Patients with Oligodontia

Nieminen, Pekka; Kotilainen, Johanna; Aalto, Yan; Knuutila, Sakari; Pirinen, Sinikka; Thesleff, Irma

doi:10.1177/154405910308201215

Cited by 88 publications

(64 citation statements)

References 29 publications

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“…The Wolf-Hirschhorn syndrome is caused by a deletion of the WHS locus -including MSX1 -on chromosome 4p. 10 The phenotype includes mental and growth retardation, characteristic craniofacial features, seizures, and tooth agenesis. Furthermore, a nonsense mutation in MSX1 accounts for the genetic etiology of Witkop syndrome characterized by tooth agenesis and nail dysplasia.…”

Section: Disease Phenotypes Caused By Msx1 Mutationsmentioning

confidence: 99%

“…5,6 In humans, MSX1 variants show pleiotropic phenotypes with variable association with non-syndromic cleft lip with or without cleft palate (CL/P,OMIM #608874, Orofacial Cleft 5, OFC5), non-syndromic tooth agenesis (OMIM, #106600 -Tooth Agenesis, Selective, 1; STHAG1), Witkop syndrome (OMIM, #189500) and Wolf-Hirschhorn syndrome (WHS, OMIM, #194190). [7][8][9][10] Mice with a homozygous deletion of Msx1 exhibit a complete cleft palate and failure of tooth development. 11 Affected individuals from the same pedigree carrying the same MSX1 variant also show variable phenotype severity.…”

Section: Introductionmentioning

confidence: 99%

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MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

Liang

Hoff

Lange³

et al. 2016

Eur J Hum Genet

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The Msx1 transcription factor is involved in multiple epithelial-mesenchymal interactions during vertebrate embryogenesis. It has pleiotropic effects in several tissues. In humans, MSX1 variants have been related to tooth agenesis, orofacial clefting, and nail dysplasia. We correlate all MSX1 disease causing variants to phenotypic features to shed light on this hitherto unclear association. MSX1 truncations cause more severe phenotypes than in-frame variants. Mutations in the homeodomain always cause tooth agenesis with or without other phenotypes while mutations outside the homeodomain are mostly associated with non-syndromic orofacial clefts. Downstream effects can be further explored by the edgetic perturbation model. This information provides new insights for genetic diagnosis and for further functional analysis of MSX1 variants.

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Section: Disease Phenotypes Caused By Msx1 Mutationsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

Liang

Hoff

Lange³

et al. 2016

Eur J Hum Genet

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“…Due to the lack of tooth buds, over-retained primary teeth are observed. Among various tooth anomalies, also taurodontism had been reported [27][28][29]. Another characteristic might be late dental development, which is specified as delayed tooth eruption and slower maturation expressed in dental age [30].…”

Section: Facial and Dental Featuresmentioning

confidence: 99%

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Paradowska-Stolarz¹

2014

Adv Clin Exp Med

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Wolf-Hirschhorn syndrome (WHS) is a congenital disorder associated with 4 chromosome microdeletion. The patients suffer from various deformities. Among them, mental and growth retardation, even in the fetus, are observed. Most of the characteristics concern facial features. The "Greek warrior helmet appearance" is the most characteristic feature and refers to the facial view with prominent glabella, high arched eyebrow, broad nasal bridge and hypertelorism. Another characteristic feature is microcephalia with micrognathia. The features are more pronounced in infants. Clefts of lip and/or palate are observed in almost half of the cases. The characteristic thing is that the more genetic material is missing, the more pronounced are the dimorphic features of the syndrome. Mostly, the dental status does not differ much from that of the healthy individuals. It had been proven though that WHS-patients are more prone to anomalies in dental structures. Cone-shaped and taurodontic teeth were observed. Multiple tooth agenesis (mainly at premolars and molars) with over-retained deciduous dentition might be associated with MSX1-gene impairment (Adv Clin Exp Med 2014, 23, 3, 485-489).

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“…In WHS patients with oligodontia, the gene MSX1 has been found to be deleted. 24 MSX1 lies proximally to 4p16.3.…”

Section: Wolf-hirschhorn Syndrome (Whs; Omim 194190) Is a Contiguous mentioning

confidence: 99%

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

Hammond¹,

Hannes

Suttie³

et al. 2011

Eur J Hum Genet

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Wolf-Hirschhorn syndrome is caused by anomalies of the short arm of chromosome 4. About 55% of cases are due to de novo terminal deletions, 40% from unbalanced translocations and 5% from other abnormalities. The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum. We used dense surface modelling and pattern recognition techniques to delineate the milder facial phenotype of individuals with a small terminal deletion (breakpoint within 4p16.3) compared to those with a large deletion (breakpoint more proximal than 4p16.3). Further, fine-grained facial analysis of several individuals with an atypical genotype and/or phenotype suggests that multiple genes contiguously contribute to the characteristic Wolf-Hirschhorn syndrome facial phenotype.

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MSX1 Gene is Deleted in Wolf-Hirschhorn Syndrome Patients with Oligodontia

Cited by 88 publications

References 29 publications

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

MSX1 mutations and associated disease phenotypes: genotype-phenotype relations

Wolf-Hirschhorn Syndrome (WHS) – Literature Review on the Features of the Syndrome

Fine-grained facial phenotype–genotype analysis in Wolf–Hirschhorn syndrome

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