ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT
LIP-PALATE SYNDROME DUE TO A NOVEL MISSENSE
MUTATION IN THE SAM DOMAIN OF THE TP63 GENE Tajir M1,2,3,*, Lyahyai J1,2, Guaoua S1,2, El Alloussi M4, Sefiani A1,2 *Corresponding Author: Dr. Mariam Tajir, Medical genetics laboratory, Faculty of Medicine and
Pharmacy, Mohamed Premier University, B.P 4867 Oujda l’Université, 60049 Oujda, Morocco.
Tel: +212(0)-536-531-414. Fax: +212(0)-536-531-919. E-mail: mariam_tajir@yahoo.fr page: 1 download article in pdf format
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Abstract
Ankyloblepharon-ectodermal defects-cleft lip/palate
(AEC) syndrome is a rare genetic disease with an autosomal
dominant transmission, characterized by several
congenital anomalies. Clinical features include ectodermal
defects affecting the skin, hair, teeth, nails and sweat
glands, associated with typical eyelid fusion in addition to
a cleft lip and/or palate. The diagnosis is based on clinical
criteria and molecular genetic testing of TP63 gene, the
gene related to AEC syndrome. In this context, most reported
mutations induce an amino acid change in the sterile
alpha motif (SAM) domain, and are predicted to disrupt
protein-protein interactions. We here describe the case of
a 2-year-old Moroccan girl diagnosed with AEC syndrome
on the basis of clinical features. The molecular studies and
bioinformatics tools revealed a novel heterozygous missense
mutation c.1798G>C (p.Gly600Arg) in exon 14 of
the TP63 gene, that was not found in her parents. The molecular
analysis and the early diagnosis of this syndrome
are important to offer appropriate genetic counseling and
management to patients and their families.
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