A FAMILY FROM TURKEY WITH HAY WELLS SYNDROME RESULTING FROM HETEROZYGOUS MUTATION OF P63 GENE Türkiye'deki bir ailede heterozigot p63 mutasyonunun neden olduğu Hay Wells sendromu
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چکیده
INTRODUCTION Hay Wells syndome, also known as ankyloblepharon–ectodermal dysplasia–clefting (AEC) syndrome, is one of the ectodermal dysplasia syndromes. It is an autosomal dominant disorder characterized by findings of ectodermal dyplasia including alopecia, scalp infections, dystrophic nails, hypodontia, ankyloblepharon and cleft lip-palate (1). It was first described by Hay and Wells in 7 individuals with different familial penetrance (2). Sporadic cases have also rarely been described (3). Ectrodactyly, also known as split hand/foot malformation, is a central reduction defect of the hand and foot, frequently accompanied by syndactyly (4, 5). A FAMILY FROM TURKEY WITH HAY WELLS SYNDROME RESULTING FROM
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The p63 gene in EEC and other syndromes.
Several autosomal dominantly inherited human syndromes have recently been shown to result from mutations in the p63 gene. These syndromes have various combinations of limb malformations fitting the split hand-split foot spectrum, orofacial clefting, and ectodermal dysplasia. The p63 syndrome family includes the EEC syndrome, AEC syndrome, ADULT syndrome, limb-mammary syndrome, and non-syndromic...
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The transcriptional co-activator p63 is of crucial importance for correct development of the limbs, ectodermal appendages (skin, nails, teeth, hair, glands), lip and palate. Mutations in the p63 gene are found in a number of human syndromes, including ectrodactyly-ectodermal dysplasia-cleft lip/palate (EEC) syndrome, limb-mammary syndrome (LMS), Hay-Wells syndrome and in non-syndromic split-han...
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Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome, which is characterized by cleft palate and severe defects of the skin, is an autosomal dominant disorder caused by mutations in the gene encoding transcription factor p63. Here, we report the generation of a knock-in mouse model for AEC syndrome (p63(+/L514F) ) that recapitulates the human disorder. The AEC mutation exerts a se...
متن کاملAnalysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts.
EEC syndrome is an autosomal dominant disorder with the cardinal signs of ectrodactyly, ectodermal dysplasia, and orofacial clefts. EEC syndrome has been linked to chromosome 3q27 and heterozygous p63 mutations were detected in unrelated EEC families. In addition, homozygous p63 null mice exhibit craniofacial abnormalities, limb truncations, and absence of epidermal appendages, such as hair fol...
متن کاملp63 control of desmosome gene expression and adhesion is compromised in AEC syndrome
Ankyloblepharon, ectodermal defects, cleft lip/palate (AEC) syndrome is a rare autosomal dominant disorder caused by mutations in the p63 gene, essential for embryonic development of stratified epithelia. The most severe cutaneous manifestation of this disorder is the long-lasting skin fragility associated with severe skin erosions after birth. Using a knock-in mouse model for AEC syndrome, we ...
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