Mild Nasal Malformations and Parietal Foramina Caused by Homozygous ALX4 Mutations

Kayserili H., Altunoglu U., Ozgur H., Basaran S., Uyguner Z. O.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, sa.1, ss.236-244, 2012 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: Sayı: 1
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1002/ajmg.a.34390
  • Dergi Adı: AMERICAN JOURNAL OF MEDICAL GENETICS PART A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.236-244
  • Anahtar Kelimeler: ALX4, frontonasal dysplasia, craniofrontonasal dysplasia, craniorhiny, frontorhiny, parietal foramina, bifid nose, ALX genes, HOMEOBOX GENE, PROTEIN-STRUCTURE, SWISS-MODEL, OSSIFICATION DEFECTS, SKULL OSSIFICATION, HAPLOINSUFFICIENCY, ENVIRONMENT, PHENOTYPE, DISEASE, MSX2
  • İstanbul Üniversitesi Adresli: Evet

Özet

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. (C) 2011 Wiley Periodicals, Inc.