Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population
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-dista...
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| Published in | Pakistan journal of medical sciences Vol. 31; no. 6; pp. 1542 - 1544 |
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| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Pakistan
Knowledge Bylanes
31.12.2015
Professional Medical Publications |
| Subjects | |
| Online Access | Get full text |
| ISSN | 1682-024X 1681-715X 1681-715X |
| DOI | 10.12669/pjms.316.8115 |
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| 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. |
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| AbstractList | 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. |
| Audience | General |
| Author | Faiyaz Ul Haque, Muhammad Riaz, Hafiza Fizzah Mumtaz, Sara Basit, Sulman Touseef, Mohammad Malik, Sajid |
| AuthorAffiliation | 5 Muhammad Faiyaz Ul Haque, Molecular Genetic Pathology Unit, Department of Pathology & Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia 3 Mohammad Touseef, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan 1 Sara Mumtaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan 6 Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan 2 Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan 4 Sulman Basit, Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Kingdom of Saudi Arabia |
| AuthorAffiliation_xml | – name: 5 Muhammad Faiyaz Ul Haque, Molecular Genetic Pathology Unit, Department of Pathology & Laboratory Medicine, College of Medicine, King Saud University, Riyadh, Kingdom of Saudi Arabia – name: 1 Sara Mumtaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan – name: 2 Hafiza Fizzah Riaz, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan – name: 6 Sajid Malik, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan – name: 4 Sulman Basit, Center for Genetics and Inherited Diseases, Taibah University Almadinah Almunawwarah, Kingdom of Saudi Arabia – name: 3 Mohammad Touseef, Human Genetics Program, Department of Animal Sciences, Faculty of Biological Sciences, Quaid-i-Azam University, 45320 Islamabad, Pakistan |
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| Keywords | Dwarfism Pakistani subject Acromesomelic dysplasia CDMP1 GDF5 Grebe syndrome |
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| Snippet | Grebe syndrome (OMIM-200700) is a very rare type of acromesomelic dysplasia with autosomal recessive inheritance. We studied a Pakistani family with two... |
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| Title | Recurrent mutation in CDMP1 in a family with Grebe chondrodysplasia: broadening the phenotypic manifestation of syndrome in Pakistani population |
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