Novel compound heterozygous mutations in GPT2 linked to microcephaly, and intellectual developmental disability with or without spastic paraplegia

2017 ◽  
Vol 176 (2) ◽  
pp. 421-425 ◽  
Author(s):  
Hande Kaymakcalan ◽  
Yanki Yarman ◽  
Nukte Goc ◽  
Fatih Toy ◽  
Cihan Meral ◽  
...  
Keyword(s):  
Developmental Disability ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Compound Heterozygous Mutations

scholarly journals Phenoconversion from Spastic Paraplegia to ALS/FTD Associated with CYP7B1 Compound Heterozygous Mutations

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1876
Author(s):  
Julian Theuriet ◽  
Antoine Pegat ◽  
Pascal Leblanc ◽  
Sandra Vukusic ◽  
Cécile Cazeneuve ◽  
...  
Keyword(s):  
Lower Limb ◽  
Clinical Symptoms ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
The Third ◽  
Limb Spasticity ◽  
Lower Limb Spasticity ◽  
Compound Heterozygous Mutations ◽  
Biallelic Mutations ◽  
Lateral Sclerosis

Biallelic mutations in the CYP7B1 gene lead to spastic paraplegia-5 (SPG5). We report herein the case of a patient whose clinical symptoms began with progressive lower limb spasticity during childhood, and who secondly developed amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) at the age of 67 years. Hereditary spastic paraplegia (HSP) gene analysis identified the compound heterozygous mutations c.825T>A (pTyr275*) and c.1193C>T (pPro398Leu) in CYP7B1 gene. No other pathogenic variant in frequent ALS/FTD causative genes was found. The CYP7B1 gene seems, therefore, to be the third gene associated with the phenoconversion from HSP to ALS, after the recently described UBQLN2 and ERLIN2 genes. We therefore expand the phenotype associated with CYP7B1 biallelic mutations and make an assumption about a link between cholesterol dyshomeostasis and ALS/FTD.

scholarly journals Novel SPG 11 Mutations in Hereditary Spastic Paraplegia With Thin Corpus Callosum in a Chinese Family

2016 ◽  
Vol 43 (6) ◽  
pp. 833-840
Author(s):  
Xiaojie Tian ◽  
Min Wang ◽  
Kaiyuan Zhang ◽  
Xinqing Zhang
Keyword(s):  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Protein Product ◽  
Exome Capture ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Reading Frame ◽  
Physical Examinations ◽  
Compound Heterozygous Mutations

AbstractBackground: Hereditary spastic paraplegia (HSP) is a neurodegenerative disease that is characterized by progressive weakness and spasticity of the lower extremities; HSP can present as complicated forms with additional neurological signs. More than 70 disease loci have been described with different modes of inheritance. Methods: In this study, nine subjects from a Chinese family that included two individuals affected by HSP were examined through detailed clinical evaluations, physical examinations, and genetic tests. Targeted exome capture technology was used to identify gene mutations. Results: Two novel compound heterozygous mutations in the SPG 11 gene were identified, c.4001_4002insATAAC and c.4057C>G. The c.4001_4002insATAAC mutation leads to a reading frame shift during transcription, resulting in premature termination of the protein product. The missense mutation c.4057C>G (p.H1353D) is located in a highly conserved domain and is predicted to be a damaging substitution. Conclusions: Based on the results described here, we propose that these novel compound heterozygous mutations in SPG 11 are the genetic cause of autosomal recessive HSP in this Chinese family.

Atypical late-onset hereditary spastic paraplegia with thin corpus callosum due to novel compound heterozygous mutations in the SPG11 gene

2014 ◽  
Vol 261 (9) ◽  
pp. 1825-1827 ◽  
Author(s):  
Maria Pia Giannoccaro ◽  
Rocco Liguori ◽  
Alessia Arnoldi ◽  
Vincenzo Donadio ◽  
Patrizia Avoni ◽  
...  
Keyword(s):  
Corpus Callosum ◽  
Hereditary Spastic Paraplegia ◽  
Late Onset ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Thin Corpus Callosum ◽  
Compound Heterozygous Mutations

Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia

Neurogenetics ◽  
2018 ◽  
Vol 19 (3) ◽  
pp. 145-149 ◽  
Author(s):  
Maria Steenhof ◽  
Maria Kibæk ◽  
Martin J. Larsen ◽  
Mette Christensen ◽  
Allan Meldgaard Lund ◽  
...  
Keyword(s):  
Amino Acid ◽  
Hereditary Spastic Paraplegia ◽  
Compound Heterozygous ◽  
Spastic Paraplegia ◽  
Amino Acid Levels ◽  
Compound Heterozygous Mutations
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