Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome

Marios Kambouris (1) , Rachid C. Maroun (2) , Tawfeg Ben-Omran (3) , Yasser Al-Sarraj (1) , Khaoula Errafii (1) , Rehab Ali (4) , Hala Boulos (5) , Patrick Curmi (2) , Hatem El-Shanti (1, 6)

1 QBRI - Qatar Biomedical Research Institute
2 SABNP - Structure et activité des biomolécules normales et pathologiques
3 WCMC-Q - Weill Cornell Medical College in Qatar
4 Hamad Medical Corporation [Doha, Qatar]
5 Shafallah Medical Genetics Center
6 University of Iowa [Iowa City]

A consanguineous Arab family is affected by an apparently novel autosomal recessive disorder characterized by cognitive impairment, failure-to-thrive, hypotonia and dysmorphic features including bilateral ptosis and epicanthic folds, synophrys, midface hypoplasia, downturned mouth corners, thin upper vermillion border and prominent ears, bilateral 5th finger camptodactyly, bilateral short 4th metatarsal bones, and limited knee mobility bilaterally.

Keywords: Cognitive impairment; Homozygosity mapping; In-silico protein modeling; Zinc finger proteins; Next generation exomesequencing

Domains: Human genetics; Biochemistry, Molecular Biology

Marios Kambouris, Rachid C. Maroun, Tawfeg Ben-Omran, Yasser Al-Sarraj, Khaoula Errafii, et al.. Mutations in zinc finger 407 [ZNF407] cause a unique autosomal recessive cognitive impairment syndrome. Orphanet Journal of Rare Diseases, 2014, 9 (1), pp.80. ⟨10.1186/1750-1172-9-80⟩. ⟨hal-02292662⟩