Ablepharon-Macrostomia syndrome: First report of familial occurrence

Ferraz, Victor Evangelista de Faria; Melo, Débora Gusmão; Hansing, Susanne E.; Cruz, Antônio Augusto Velasco e; Neto, João Monteiro de Pina

doi:10.1002/1096-8628(20001002)94:4<281::aid-ajmg3>3.0.co;2-s

Cited by 24 publications

(47 citation statements)

References 11 publications

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“…5,6,11,19,20,24 BSS is characterized by The American Journal of Human Genetics 97, 1-12, July 2, 2015 3 ectropion, macrostomia, ear abnormalities, bulbous nose with hypoplastic alae nasi, redundant skin, hypertrichosis, and variable other features. 14,16,21,23,25,26 Several instances of parent-to-child transmission suggest that both AMS and BSS are inherited in an autosomal-dominant fashion, 2,8,9,21,22 but no specific gene defect has been associated with these disorders. The substantial phenotypic overlap between AMS and BSS, as well as a shared mode of inheritance, supports the hypothesis that the two disorders are caused by dominant mutations in the same gene.…”

Section: Introductionmentioning

confidence: 99%

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Marchegiani

Davis

Tessadori

et al. 2015

The American Journal of Human Genetics

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Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based solely upon the nature of the substituting amino acid: a lysine at TWIST2 residue 75 resulted in AMS, whereas a glutamine or alanine yielded BSS. TWIST2 encodes a basic helix-loop-helix transcription factor that regulates the development of mesenchymal tissues. All identified mutations fell in the basic domain of TWIST2 and altered the DNA-binding pattern of Flag-TWIST2 in HeLa cells. Comparison of wild-type and mutant TWIST2 expressed in zebrafish identified abnormal developmental phenotypes and widespread transcriptome changes. Our results suggest that autosomal-dominant TWIST2 mutations cause AMS or BSS by inducing protean effects on the transcription factor's DNA binding.

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Section: Introductionmentioning

confidence: 99%

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Marchegiani

Davis

Tessadori

et al. 2015

The American Journal of Human Genetics

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“…Nine previously published patients from eight unrelated families [Price et al, ; Cruz et al, ; Ferraz et al, ; Stevens and Sargent, ; Brancati et al, ; Kallish et al, ] and two unpublished cases with AMS could be recruited for this study. The two novel patients represented sporadic cases born to unrelated parents with an unremarkable family history, and they exhibited typical signs of this syndrome.…”

Section: Methods and Resultsmentioning

confidence: 99%

“…Nevertheless, the nature of facial, particularly ocular anomalies and associated renal and laryngotracheal malformations usually allow to distinguish FS from AMS. Fourteen well‐documented cases of AMS have been described in the literature [McCarthy and West, ; Hornblass and Reifler, ; Jackson et al, ; Price et al, ; Cruz et al, ; Ferraz et al, ; Stevens and Sargent, ; Brancati et al, ; Kallish et al, ; Rohena et al, ]. In three possible further cases, the diagnosis is less clear [Pellegrino et al, ; Amor and Savarirayan, ; Cavalcanti et al, ].…”

Section: Introductionmentioning

confidence: 99%

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Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

Schanze

Harakaľová

Stevens

et al. 2013

American J of Med Genetics Pt A

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Ablepharon macrostomia syndrome (AMS; OMIM 200110) is an extremely rare congenital malformation syndrome. It overlaps clinically with Fraser syndrome (FS; OMIM 219000), which is known to be caused by mutations in either FRAS1, FREM2, or GRIP1, encoding components of a protein complex that plays a role in epidermal-dermal interactions during morphogenetic processes. We explored the hypothesis that AMS might be either allelic to FS or caused by mutations in other genes encoding known FRAS1 interacting partners. No mutation in either of these genes was found in a cohort of 11 patients with AMS from 10 unrelated families. These findings demonstrate that AMS is genetically distinct from FS. It is proposed that it constitutes a separate entity within the group of FRAS-FREM complex disorders.

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“…AMS has been reported to be an autosomal recessive entity, and it has been suggested that the gene maps to 18q [1]. Cruz et al [2] described affected siblings, and Ferraz [3] reported a familial case which affected father and son.…”

Section: Introductionmentioning

confidence: 99%

Clinical Variant of Ablepharon Macrostomia Syndrome

Larumbe

Villalta

Velez

2011

Case Reports in Dermatological Medicine

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Ablepharon syndrome is an extremely rare genetic problem that causes severe craniofacial deformities and numerous other abnormalities of the face, genitalia, and skin. The literature regarding this condition is scarce. We present a case of this syndrome with dental manifestations, not reported before, and discuss its characteristics in order to increase the knowledge of this condition among the dental profession.

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Ablepharon-Macrostomia syndrome: First report of familial occurrence

Cited by 24 publications

References 11 publications

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes

Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS–FREM complex disorders

Clinical Variant of Ablepharon Macrostomia Syndrome

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