A Deletion Mutation in TMEM38B Associated with Autosomal Recessive Osteogenesis Imperfecta

2013 ◽  
pp. n/a-n/a ◽  
Author(s):  
Michael Volodarsky ◽  
Barak Markus ◽  
Idan Cohen ◽  
Orna Staretz-Chacham ◽  
Hagit Flusser ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Deletion Mutation

A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta

Gene ◽  
2014 ◽  
Vol 545 (2) ◽  
pp. 290-292 ◽  
Author(s):  
Elisa Rubinato ◽  
Anna Morgan ◽  
Angela D'Eustacchio ◽  
Vanna Pecile ◽  
Giulia Gortani ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Deletion Mutation

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 61 (6) ◽  
pp. 539-545 ◽  
Author(s):  
Fang Lv ◽  
Xiao-jie Xu ◽  
Jian-yi Wang ◽  
Yi Liu ◽  
Asan ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Novel Mutations

Phenotypical features of an unique Irish family with severe autosomal recessive Osteogenesis imperfecta

2008 ◽  
Vol 35 (3) ◽  
pp. 181-190 ◽  
Author(s):  
E. Mair Williams ◽  
Alan C. Nicholls ◽  
Sara C. M. Daw ◽  
Nan Mitchell ◽  
L. Stefan Levin ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Irish Family

scholarly journals Molecular spectrum and differential diagnosis in patients referred with sporadic or autosomal recessive osteogenesis imperfecta

2016 ◽  
Vol 5 (1) ◽  
pp. 28-39 ◽  
Author(s):  
Jose A. Caparros-Martin ◽  
Mona S. Aglan ◽  
Samia Temtamy ◽  
Ghada A. Otaify ◽  
Maria Valencia ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Molecular Spectrum

scholarly journals Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Shan Li ◽  
Yixuan Cao ◽  
Han Wang ◽  
Lulu Li ◽  
Xiuzhi Ren ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Phenotypic Analysis ◽  
Chinese Cohort

scholarly journals Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

2020 ◽  
Vol 11 ◽  
Author(s):  
Yen-An Tang ◽  
Lin-Yen Wang ◽  
Chiao-May Chang ◽  
I-Wen Lee ◽  
Wen-Hui Tsai ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2020 ◽  
Vol 11 ◽  
Author(s):  
Parham Habibzadeh ◽  
Zahra Tabatabaei ◽  
Soroor Inaloo ◽  
Muhammad Mahdi Nashatizadeh ◽  
Matthis Synofzik ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Deletion Mutation ◽  
Sensorimotor Neuropathy ◽  
Spastic Ataxia ◽  
Phenotypic Spectrum ◽  
Iranian Family ◽  
Biallelic Mutations

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

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