title: Mild nasal malformations and parietal foramina caused by homozygous ALX4 mutations.
abstract: We report on a boy born to consanguineous parents, who had hypertelorism, a broad nasal bridge, ridge and tip, bifid nasal tip, cleft alae nasi, broad columella, unilateral preauricular tag, shallow labiogingival sulcus, and bilateral large parietal foramina. Cranial MRI revealed a kinked corpus body and small cerebellar vermis. Molecular analysis uncovered a homozygous c.673C > G (p.Q225E) mutation in ALX4 gene. We compare the relatively mild phenotype in the patient to the more marked phenotype described in other patients with homozygous ALX4 mutations, and to the phenotypes in patients with mutations in other ALX genes.
authors.affiliation: Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. hkayseri@istanbul.edu.tr
authors.forename: Hülya
authors.initials: H
authors.lastname: Kayserili
authors.forename: U
authors.initials: U
authors.lastname: Altunoglu
authors.forename: H
authors.initials: H
authors.lastname: Ozgur
authors.forename: S
authors.initials: S
authors.lastname: Basaran
authors.forename: Z O
authors.initials: ZO
authors.lastname: Uyguner
mesh_terms: D002648:Child; D003241:Consanguinity; D004268:DNA-Binding Proteins / Q000235:genetics*; D004423:Ear / Q000002:abnormalities; D004677:Encephalocele / Q000235:genetics*; D056726:Genetic Association Studies; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense; D009666:Nose / Q000002:abnormalities*; D010294:Parietal Bone / Q000002:abnormalities; D010641:Phenotype; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C416676:ALX4 protein, human; D004268:DNA-Binding Proteins; D014157:Transcription Factors