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

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

From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

2019 ◽  
Vol 179 (11) ◽  
pp. 2277-2283 ◽  
Author(s):  
Marta Gatti ◽  
Stefania Magri ◽  
Lorenzo Nanetti ◽  
Elisa Sarto ◽  
Daniela Di Bella ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Gene Mutations ◽  
Adult Onset ◽  
Congenital Microcephaly

scholarly journals Genotype–phenotype correlation of PAX6 gene mutations in aniridia

2016 ◽  
Vol 3 (1) ◽  
Author(s):  
Tadashi Yokoi ◽  
Sachiko Nishina ◽  
Maki Fukami ◽  
Tsutomu Ogata ◽  
Katsuhiro Hosono ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Pax6 Gene ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

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 Coq8a Mutation in a Case with Juvenile Onset Coq10d4: Case Report and Literature Review

2022 ◽  
Author(s):  
Özge Dedeoglu ◽  
Ajlan Tükün ◽  
Yahya Laleli
Keyword(s):  
Cerebellar Ataxia ◽  
Clinical Laboratory ◽  
Cerebellar Atrophy ◽  
Gene Mutations ◽  
Autosomal Recessive Disorder ◽  
Mitochondrial Respiratory Chain ◽  
Clinical Findings ◽  
Exercise Intolerance ◽  
Juvenile Onset ◽  
Progressive Cerebellar Ataxia

Abstract Primary coenzyme Q10 deficiency-4 (COQ10D4) is an autosomal recessive disorder characterized by childhood-onset of cerebellar ataxia and exercise intolerance. Molecular pathology responsible for clinical findings is mitochondrial respiratory chain dysfunction. The main clinical manifestation involves early onset exercise intolerance, progressive cerebellar ataxia and movement disorders. Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. COQ8A gene mutations are responsible for this disease. Here we present a patient with tremor and cerebellar atrophy in which we detected a new mutation in the COQ8A gene. The patient's clinical findings were compatible with juvenile onset COQ10D4. Therefore, we reviewed the clinical, laboratory and genetic findings of 11 juvenile-onset COQ10D4 patients reported to date, as well as the patient's presentation.

SOX2 heterozygous mutation causes multiple extra-ocular phenotypes in boys

2020 ◽  
Author(s):  
Yi Wang ◽  
LiJun Fan ◽  
Xiaoya Ren ◽  
Yanning Song ◽  
Beibei Zhang ◽  
...  
Keyword(s):  
Mental Retardation ◽  
De Novo ◽  
Hypogonadotropic Hypogonadism ◽  
Gene Mutations ◽  
Delayed Puberty ◽  
Heterozygous Mutation ◽  
Common Symptom ◽  
Causative Gene ◽  
Pathogenic Genes ◽  
The Central Nervous System

Abstract Background The SOX2 gene is widely expressed in the eyes and the central nervous system. Heterozygous mutations could cause eye malformations and hypopituitarism, and serve as the causative gene for syndromic and non-syndromic hypogonadotropic hypogonadism (HH). Our study reports three children with chromosome 46, XY, SRY (+), but SOX2 mutations.Methods Three children visited our endocrine clinic because of micropenis and/or cryptorchidism. Clinical data were collected, and one took PANEL sequencing and the others for whole exome sequencing. Then we summarized characteristics of the patients and compared with those mentioned in literature.Results Patient 1 manifested with micropenis, patient 2 with bilateral cryptorchidism and craniofacial deformities, both carrying the same reported SOX2 gene mutation (T232N), and both mutations from mothers with delayed puberty only. Patient 3 showed micropenis, mental retardation and craniofacial deformities, and the child carried a spontaneous truncation mutation (Y110X) of the SOX2 gene. This site has reported that a missense mutation caused adolescent adolescence without major eye signs. All three patients carried another gene mutations that affected hypothalamic-pituitary function: Patient 1, FGFR1: c.238C>T/p.R80C (uncertain) from father; Patient 2, CHD7: c.2656C>T/p.R886W (pathogenic) de novo; Patient 3, SEMA3A: c.1432G> A/p.E478K (uncertain) from mother. None had major ocular malformations, and all showed genitourinary tract malformations. Two patients had craniofacial deformities, and one patient had muscle anomality and intellectual disability. We summarized previous studies with SOX2 gene mutations and it showed: 71.2% of mutations are de novo, all patients reported whose variants inherit from parents, 15.1% parents (including mother 11.0% and father 4.1%) show completely normal phenotypes, 4.1% (3/73) variants inherit from mother with germinal mosaicism. Except for major ocular malformations (91.1%), the most common phenotype is developmental delay/mental retardation (DD/MR), accounting for 40.7%, followed by brain anomely (BA), accounting for 28.5%, male genital abnormalities (GA) for 20.3%, non-syndromic HH accounted for 4.9%, the younger the patients visit the doctor, the more common the retardation are. Conclusion SOX2 mutations could cause a broad phenotype spectrum from completely normal to severe ocular malformations, retardation and most mutations are de novo. Except for major ocular malformations and retardation, GA/HH is another common symptom. GA/HH may be the only symptom, and SOX2 may cooperate with another HH pathogenic genes to cause non-syndromic HH.

scholarly journals Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation

2018 ◽  
Vol 30 (1) ◽  
pp. 181-188
Author(s):  
Dou-Dou Chen ◽  
Tao Yang ◽  
Si-Quan Zhu
Keyword(s):  
Mental Retardation ◽  
Family Members ◽  
Gene Mutations ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Pathological Feature ◽  
Phosphate Backbone ◽  
Symptom Complex ◽  
Congenital Aniridia ◽  
And Control

Background: One prominent pathological feature of congenital aniridia is hypoplasia of the iris, often accompanied by other eye abnormalities. The objective of this study is to identify gene mutations responsible for autosomal dominance in a Chinese family with congenital aniridia, progressive cataracts and mental retardation. Methods: A total of 11 family members, including 6 affected and 5 unaffected individuals were recruited. Whole exome sequencing was performed on the proband and Sanger sequencing was applied to identify the causal mutation in the other family members and control samples. Results: A heterozygous mutation, c. 112delC (p. Arg38fs) in PAX 6, was identified in the family that was associated with congenital aniridia, progressive cataracts and mental retardation. The mutation was exclusively observed in all affected individuals but not in unaffected family members or unrelated healthy controls without aniridia recruited from Beijing Tongren Hospital. Bioinformatics analysis indicated that the mutation c. 112delC (p. Arg38fs) in PAX 6 affected sugar phosphate backbone construction, leading to half reduction of the full-length protein. Other symptoms such as lens opacity, keratitis, lens dislocation, ciliary body hypoplasia, foveal hypoplasia and mental development retardation were also observed in this family. Conclusion: These results provided a new insight into the effects of PAX 6 as a mutational hotspot, with a symptom complex that includes congenital aniridia, progressive cataracts and mental retardation. These findings suggested the cognitive treatment of PAX 6-mutated individuals could be considered earlier clinically, combined with medication or surgery of congenital aniridia and progressive cataracts.

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