Coffin‐Siris syndrome with bilateral macular dysplasia caused by a novel exonic deletion in ARID1B

2020 ◽  
Vol 60 (6) ◽  
pp. 189-193
Author(s):  
Takako Fujita ◽  
Yukiko Ihara ◽  
Hitomi Hayashi ◽  
Atsushi Ishii ◽  
Hiroshi Ideguchi ◽  
...  
Keyword(s):  
Exonic Deletion

scholarly journals Hereditary spastic paraplegia associated with a rare endoplasmic reticulum lipid raft-associated protein 2 mutation

2020 ◽  
Vol 7 (10) ◽  
pp. 2077
Author(s):  
Sai Chandar Dudipala ◽  
Naveen Reddy Cheruku ◽  
Krishna Chaithanya Battu
Keyword(s):  
Endoplasmic Reticulum ◽  
Cerebral Palsy ◽  
Lipid Raft ◽  
Hereditary Spastic Paraplegia ◽  
Autosomal Recessive ◽  
Adult Population ◽  
Complex Form ◽  
Spastic Paraplegia ◽  
Childhood Onset ◽  
Exonic Deletion

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. It can present as pure form or complex form. It can be present from infancy to adulthood, but majority in adult population. Childhood onset HSP must be differentiated from common conditions like cerebral palsy, neurodegenerative disorders and metabolic disorders. Many patients with pediatric HSP are mistakenly diagnosed with cerebral palsy. In children with spastic paraplegia in whom no acquired cause identified, HSP should be considered. Here we diagnosed a 6-year-old boy with HSP who presented with progressive spastic paraplegia, intellectual disability, seizures, joint contractures and cataract. His genetic study revealed exonic deletion of endoplasmic reticulum lipid raft-associated protein gene, which is associated with complicated Autosomal recessive HSP 18 (SPG18). HSP 18 was rarely described in literature.

scholarly journals Exonic deletion ofSLC9A9in autism with epilepsy

2016 ◽  
Vol 2 (2) ◽  
pp. e62 ◽  
Author(s):  
Meeta Cardon ◽  
Karen D. Evankovich ◽  
J. Lloyd Holder
Keyword(s):  
Exonic Deletion

scholarly journals A novel break point of the BMPR2 gene exonic deletion in a patient with pulmonary arterial hypertension

2013 ◽  
Vol 58 (12) ◽  
pp. 815-818 ◽  
Author(s):  
Yuki Aimi ◽  
Tomomi Hirayama ◽  
Masaharu Kataoka ◽  
Yuichi Momose ◽  
Saiko Nishimaki ◽  
...  
Keyword(s):  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Break Point ◽  
Pulmonary Arterial ◽  
Exonic Deletion

scholarly journals Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

PLoS ONE ◽  
2015 ◽  
Vol 10 (2) ◽  
pp. e0117055 ◽  
Author(s):  
Cali E. Willet ◽  
Mariano Makara ◽  
George Reppas ◽  
George Tsoukalas ◽  
Richard Malik ◽  
...  
Keyword(s):  
Human Disease ◽  
Autosomal Recessive ◽  
Spondylocostal Dysostosis ◽  
Exonic Deletion
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