Case Report
Volume: 1 | Issue: 1 | Published: Jan 01, 1970 | Pages: 43 - 46 | DOI: 10.24911/JBCGenetics/183-1531458597
An atypical presentation of severe congenital contractures and lack of cerebellar involvement in a patient with a novel LAMA1 mutation
Authors: Ameur Ammari , Amal Alhashem , Hanen Abdelraouf , Fatma Alzahrani , Fowzan Sami Alkuraya , Brahim Tabarki
Article Info
Authors
Ameur Ammari
Division of Neonatology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
Amal Alhashem
Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
Hanen Abdelraouf
Division of Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
Fatma Alzahrani
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Fowzan Sami Alkuraya
Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia, Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia
Brahim Tabarki
Division of Pediatric Neurology, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Kingdom of Saudi Arabia
Publication History
Received: November 06, 2017
Revised: December 16, 2017
Accepted: August 28, 2018
Published: January 01, 1970
Abstract
Background: LAMA1 gene is mutated in patients with Poretti-Boltshauser syndrome, which include mainly the characteristic neuroimaging findings of cerebellar dysplasia and cysts. Case Presentation: We present a novel homozygous LAMA1 variant that is predicted to cause atypical phenotype of severe arthrogryposis, feeding difficulties, developmental delay, retinopathy, and no cerebellar involvement. Conclusion: Our findings are suggestive of absence of cerebellar involvement in LAMA1 mutations in some cases and phenotype may include severe arthrogryposis.
Keywords: Case report, LAMA1 gene, arthrogryposis, cerebellum
