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De Novo Mutation in ABCC 9 Causes Hypertrichosis Acromegaloid Facial Features Disorder
Author(s) -
Afifi Hanan H.,
AbdelHamid Mohamed S.,
Eid Maha M.,
Mostafa Inas S.,
AbdelSalam Ghada M.H.
Publication year - 2016
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12821
Subject(s) - hypertrichosis , medicine , missense mutation , exon , mutation , dermatology , endocrinology , genetics , gene , biology
A 13‐year‐old Egyptian girl with generalized hypertrichosis, gingival hyperplasia, coarse facial appearance, no cardiovascular or skeletal anomalies, keloid formation, and multiple labial frenula was referred to our clinic for counseling. Molecular analysis of the ABCC 9 gene showed a de novo missense mutation located in exon 27, which has been described previously with Cantu syndrome. An overlap between Cantu syndrome, acromegaloid facial syndrome, and hypertrichosis acromegaloid facial features disorder is apparent at the phenotypic and molecular levels. The patient reported here gives further evidence that these syndromes are an expression of the ABCC 9 ‐related disorders, ranging from hypertrichosis and acromegaloid facies to the severe end of Cantu syndrome.