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Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene Cover

Ankyloblepharon-ectodermal defects-cleft lip-palate syndrome due to a novel missense mutation in the SAM domain of the TP63 gene

Balkan Journal of Medical Genetics
Volume 23 (2020): Issue 1 (June 2020)
By: M Tajir,  J Lyahyai,  S Guaoua,  M El Alloussi and  A Sefiani  
Open Access
|Aug 2020

Figures & Tables

Figure 1

A newborn with ankyloblepharon.
A newborn with ankyloblepharon.

Figure 2

Phenotypic features of patient with AEC syndrome:(a) : sparse and frizzy hair with small areas of alopecia;(b) : oligodontia and dystrophic teeth (c); (d): dystrophic nails.
Phenotypic features of patient with AEC syndrome:(a) : sparse and frizzy hair with small areas of alopecia;(b) : oligodontia and dystrophic teeth (c); (d): dystrophic nails.

Figure 3

Sequence analysis of the TP63 gene: (a) the patient DNA shows a heterozygous c. 1798G>C mutation encoding a p.Gly600Arg substitution; the mutation is absent in the father’s (b) and mother’s (c) DNA.
Sequence analysis of the TP63 gene: (a) the patient DNA shows a heterozygous c. 1798G>C mutation encoding a p.Gly600Arg substitution; the mutation is absent in the father’s (b) and mother’s (c) DNA.
DOI: https://doi.org/10.2478/bjmg-2020-0013 | Journal eISSN: 2199-5761
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Language: English
Page range: 95 - 98
Published on: Aug 26, 2020
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year
Keywords:
Ankyloblepharon,
Congenital ectodermal defect and clefting,
Hay-Wells syndrome,
Sterile alpha motif (SAM) domain,
gene
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2020 M Tajir, J Lyahyai, S Guaoua, M El Alloussi, A Sefiani, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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