Details

Autor(en) / Beteiligte

• Guazzarotti, L.
• Tadini, G.
• Mancini, G.E.
• Sani, I.
• Pisanelli, S.
• Galderisi, F.
• D'Auria, E.
• Secondi, R.
• Bottero, A.
• Zuccotti, G.V.

Titel

WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI)

Ist Teil von

• Clinical genetics, 2018-03, Vol.93 (3), p.693-698

Ort / Verlag

Oxford, UK: Blackwell Publishing Ltd

Erscheinungsjahr

2018

Quelle

Wiley-Blackwell Journals

Beschreibungen/Notizen

• Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta‐catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal‐derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24.8%), 11 of which were novel variants. The phenotype was evaluated through a detailed clinical examination of the major and minor ectodermal‐derived structures. This study is the first to show that, after ED1, WNT10A is the second molecular candidate for EDI in a large Italian Caucasian population. The study confirmed that Phe228Ile is the most frequent WNT10A variant in Caucasian populations, and that WNT10A mutations are associated with large variability in EDI. This study is the first to show that, after ED1, the WNT10A gene is the second molecular candidate for ectodermal derivative impairment in a large Italian Caucasian population. The study confirms that Phe228Ile is the most frequent WNT10A variant in the Caucasian population, and that WNT10A mutations are associated with large variability in ectodermal derivative impairment, with hypo/oligodontia being the most prevalent.