Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

2020 ◽  
Vol 182 (11) ◽  
pp. 2685-2693
Author(s):  
Lionel Paternoster ◽  
Julie Soblet ◽  
Alec Aeby ◽  
Xavier De Tiège ◽  
Serge Goldman ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Carbonic Anhydrase ◽  
Cerebellar Ataxia ◽  
Homozygous Variant ◽  
Subtype 3

scholarly journals A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
Malihe Mohamadian ◽  
Pegah Ghandil ◽  
Mohsen Naseri ◽  
Afsane Bahrami ◽  
Ali Akbar Momen
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Syndrome Type ◽  
Homozygous Variant

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Genomics ◽  
1994 ◽  
Vol 19 (1) ◽  
pp. 145-148 ◽  
Author(s):  
Tom Glaser ◽  
Carl C.T. Ton ◽  
Robert Mueller ◽  
Maria Luiza Petzl-Erler ◽  
Christina Oliver ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Gene Mutations ◽  
Pax6 Gene

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

2000 ◽  
Vol 43 (2) ◽  
pp. 82-87 ◽  
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba ◽  
Kimio Sasaki
Keyword(s):  
Mental Retardation ◽  
Peripheral Neuropathy ◽  
Cerebellar Ataxia ◽  
Hereditary Cerebellar Ataxia

scholarly journals Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

2009 ◽  
Vol 24 (10) ◽  
pp. 1310-1315 ◽  
Author(s):  
Kym M. Boycott ◽  
Carsten Bonnemann ◽  
Joachim Herz ◽  
Stephanie Neuert ◽  
Chandree Beaulieu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia

scholarly journals A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yue Zhang ◽  
Manhong Xu ◽  
Minglian Zhang ◽  
Guoxing Yang ◽  
Xiaorong Li
Keyword(s):  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Chinese Family ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Whole Exome

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.

Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII

2011 ◽  
Vol 156 (7) ◽  
pp. 826-834 ◽  
Author(s):  
Namik Kaya ◽  
Hesham Aldhalaan ◽  
Banan Al-Younes ◽  
Dilek Colak ◽  
Taghreed Shuaib ◽  
...  
Keyword(s):  
Carbonic Anhydrase ◽  
Cerebellar Ataxia ◽  
Novel Mutation ◽  
Gene Encoding

scholarly journals Epileptic Seizure Following IV Tramadol in a Patient with Mental Retardation and Cerebellar Ataxia

Pain Medicine ◽  
2011 ◽  
Vol 12 (5) ◽  
pp. 833-836 ◽  
Author(s):  
Hale Yarkan Uysal ◽  
Bağnu Bilimgut ◽  
Bayazit Dikmen ◽  
Nurten Inan ◽  
Gülay Ülger ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Epileptic Seizure
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