title: Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population.
abstract: Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two affected individuals having typical features of Grebe chondrodysplasia. Patients were observed with short and deformed limbs having a proximo-distal gradient of severity. Hind-limbs were more severely affected than fore-limbs. Digits on autopods were very short and nonfunctional. Index subject also had nearsightedness. However, symptoms in the craniofacial and axial skeleton were minimal. Genetic analysis revealed four base pair insertion mutation (c.1114insGAGT) in gene coding cartilage-derived morphogenetic protein-1 (CDMP1). This mutation was predicted to cause premature stop codon. The clinical presentation in this study broadens the range of phenotypes associated with CDMP1 mutation in Pakistani population.
authors: Sara Mumtaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Sara
authors: S
authors: Mumtaz
authors: Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Hafiza Fizzah
authors: HF
authors: Riaz
authors: Mohammad Touseef, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Mohammad
authors: M
authors: Touseef
authors: Sulman Basit, Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Kingdom of Saudi Arabia.
authors: Sulman
authors: S
authors: Basit
authors: Muhammad Faiyaz Ul Haque, Molecular Genetic Pathology Unit, Department of Pathology & Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia.
authors: Muhammad
authors: M
authors: Faiyaz Ul Haque
authors: Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan.
authors: Sajid
authors: S
authors: Malik
keywords: Acromesomelic dysplasia; CDMP1; Dwarfism; GDF5; Grebe syndrome; Pakistani subject