Ontology highlight
ABSTRACT:
SUBMITTER: Ansar M
PROVIDER: S-EPMC6174361 | biostudies-literature | 2018 Oct
REPOSITORIES: biostudies-literature
Ansar Muhammad M Chung Hyung-Lok HL Taylor Rachel L RL Nazir Aamir A Imtiaz Samina S Sarwar Muhammad T MT Manousopoulou Alkistis A Makrythanasis Periklis P Saeed Sondas S Falconnet Emilie E Guipponi Michel M Pournaras Constantin J CJ Ansari Maqsood A MA Ranza Emmanuelle E Santoni Federico A FA Ahmed Jawad J Shah Inayat I Gul Khitab K Black Graeme Cm GC Bellen Hugo J HJ Antonarakis Stylianos E SE
American journal of human genetics 20181001 4
Infantile and childhood-onset cataracts form a heterogeneous group of disorders; among the many genetic causes, numerous pathogenic variants in additional genes associated with autosomal-recessive infantile cataracts remain to be discovered. We identified three consanguineous families affected by bilateral infantile cataracts. Using exome sequencing, we found homozygous loss-of-function variants in DNMBP: nonsense variant c.811C>T (p.Arg271<sup>∗</sup>) in large family F385 (nine affected indivi ...[more]