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Gillespie syndrome

December 18, 2023

Gillespie syndrome, also called aniridia, cerebellar ataxia and mental deficiency,[1][2][3] is a rare genetic disorder. The disorder is characterized by partial aniridia (meaning that part of the iris is missing), ataxia (motor and coordination problems), and, in most cases, intellectual disability. It is heterogeneous, inherited in either an autosomal dominant or autosomal recessive manner.[4] Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965.[1][3]

Gillespie syndrome
Other namesAniridia-cerebellar ataxia-intellectual disability, Partial aniridia-cerebellar ataxia-oligophrenia
Gillespie syndrome can be inherited in either an autosomal dominant (left) or autosomal recessive (right) pattern.

Presentation edit

The combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of Gillespie syndrome.[5] Early onset partial aniridia, cerebellar ataxia, and mental retardation are hallmark of syndrome.[6] The iris abnormality is specific and seems pathognomonic of Gillespie syndrome.[6] The aniridia consisting of a superior coloboma and inferior iris hypoplasia, foveomacular dysplasia.[7]

Atypical Gillespie syndrome associated with bilateral ptosis, exotropia, correctopia, iris hypoplasia, anterior capsular lens opacities, foveal hypoplasia, retinal vascular tortuosity, and retinal hypopigmentation.[8]

Neurological signs are nystagmus, mild craniofacial asymmetry, axial hypotonia, developmental delay, and mild mental retardation.[6][7] Mariën P did not support the prevailing view of a global mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS).[9]

Congenital pulmonary stenosis and helix dysplasia can be associated.[5]

Genetics edit

Gillespie syndrome is a heterogeneous disorder, and can be inherited in either an autosomal dominant or recessive manner.[4][6] Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.[citation needed]

Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome, but two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.[citation needed]

PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome.[5] However atypical Gillespie syndrome is associated mutation with PAX6 gene.[2][8]

To elucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed.[5]

This condition is caused by mutations in the inositol 1,4,5-trisphosphate receptor type 1 (ITPR1) gene.[10] This gene is located on the short arm of chromosome 3 (3p26.1). Mutations in this gene have also been associated with spinocerebellar ataxia type 15 and 29.[citation needed]

Diagnosis edit

Brain MRI shows vermis atrophy or hypoplasic.[11] Cerebral and cerebellar atrophy with white matter changes in some cases.[6]

Treatment edit

History edit

  1. 1964 – GILLESPIE FD first described in two siblings with aniridia, cerebellar ataxia, and mental retardation.[1]
  2. 1971 – Sarsfield, J. K. described more cases in a family with normal NCV and muscle biopsy.[12]
  3. 1997 – Nelson J reported diffuse MRI abnormality in Cerebral and cerebellar atrophy with white matter changes suggested more diffuse disease.[6]
  4. 1998 – Dollfus H reported a patient with a phenotype suggestive of a chromosomal abnormality.[7]
  5. 2008 – Mariën P found limited cognitive deficit that closely resembles the "cerebellar cognitive and affective syndrome" (CeCAS).[9]

References edit

  1. ^ a b c Gillespie, FD (Mar 1965). "Aniridia, cerebellar ataxia, and oligophrenia in siblings". Archives of Ophthalmology. 73 (3): 338–341. doi:10.1001/archopht.1965.00970030340008. PMID 14246186.
  2. ^ a b Online Mendelian Inheritance in Man (OMIM): 206700
  3. ^ a b synd/2006 at Who Named It?
  4. ^ a b Defreyn, A; Maugery, J; Chabrier, S; Coullet, J (Jan 2007). "Syndrome de Gillespie : un cas rare d'aniridie congénitale". Journal Français d'Ophthalmologie (in French). 30 (1): e1. doi:10.1016/s0181-5512(07)89554-4. PMID 17287663.
  5. ^ a b c d Kieslich, M; Vanselow, K; Wildhardt, G; Gebhardt, B; Weis, R; Böhles, H (Apr 2001). "[Present limitations of molecular biological diagnostics in Gillespie syndrome]". Klinische Pädiatrie. 213 (2): 47–49. doi:10.1055/s-2001-12875. PMID 11305191. S2CID 260206851.
  6. ^ a b c d e f Nelson, J (Aug 1997). "Gillespie syndrome: a report of two further cases". American Journal of Medical Genetics. 71 (2): 134–8. doi:10.1002/(sici)1096-8628(19970808)71:2<134::aid-ajmg3>3.0.co;2-y. PMID 9217210.
  7. ^ a b c Dollfus, H (Mar 1998). "Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation". American Journal of Ophthalmology. 125 (3): 397–9. doi:10.1016/s0002-9394(99)80157-3. PMID 9512164.
  8. ^ a b Ticho, BH; Hilchie-Schmidt, C; Egel, RT; Traboulsi, EI; Howarth, RJ; Robinson, D (Dec 2006). "Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation". Ophthalmic Genetics. 27 (4): 145–149. doi:10.1080/13816810600976897. PMID 17148041. S2CID 21415333.
  9. ^ a b Mariën, P; Brouns, R; Engelborghs, S; Wackenier, P; Verhoeven, J; Ceulemans, B; De Deyn, PP (Jan 2008). "Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome". Cortex. 44 (1): 54–67. doi:10.1016/j.cortex.2005.12.001. PMID 18387531. S2CID 16768408.
  10. ^ Paganini L, Pesenti C, Milani D, Fontana L, Motta S, Sirchia SM, Scuvera G, Marchisio P, Esposito S, Cinnante CM, Tabano SM, Miozzo MR (2018) A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome. Am J Med Genet A doi: 10.1002/ajmg.a.38704
  11. ^ Boughamoura, L; Yacoub, M; Abroug, M; Chabchoub, I; Bouguezzi, R; Charfeddine, L; Amri, F; Essoussi, A-S (Oct 2006). "[Gillespie syndrome: 2 familial cases]". Archives de Pédiatrie. 13 (10): 1323–1325. doi:10.1016/j.arcped.2006.06.028. PMID 16919425.
  12. ^ Sarsfield, JK (Aug 1971). "The syndrome of congenital cerebellar ataxia, aniridia and mental retardation". Developmental Medicine & Child Neurology. 13 (4): 508–11. doi:10.1111/j.1469-8749.1971.tb03057.x. PMID 5558750. S2CID 28822017.

External links edit

  • Gillespie syndrome at MedlinePlus

December 18, 2023
gillespie, syndrome, also, called, aniridia, cerebellar, ataxia, mental, deficiency, rare, genetic, disorder, disorder, characterized, partial, aniridia, meaning, that, part, iris, missing, ataxia, motor, coordination, problems, most, cases, intellectual, disa. Gillespie syndrome also called aniridia cerebellar ataxia and mental deficiency 1 2 3 is a rare genetic disorder The disorder is characterized by partial aniridia meaning that part of the iris is missing ataxia motor and coordination problems and in most cases intellectual disability It is heterogeneous inherited in either an autosomal dominant or autosomal recessive manner 4 Gillespie syndrome was first described by American ophthalmologist Fredrick Gillespie in 1965 1 3 Gillespie syndromeOther namesAniridia cerebellar ataxia intellectual disability Partial aniridia cerebellar ataxia oligophreniaGillespie syndrome can be inherited in either an autosomal dominant left or autosomal recessive right pattern Contents 1 Presentation 2 Genetics 3 Diagnosis 4 Treatment 5 History 6 References 7 External linksPresentation editThe combination of muscular hypotonia and fixed dilated pupils in infancy is suspicious of Gillespie syndrome 5 Early onset partial aniridia cerebellar ataxia and mental retardation are hallmark of syndrome 6 The iris abnormality is specific and seems pathognomonic of Gillespie syndrome 6 The aniridia consisting of a superior coloboma and inferior iris hypoplasia foveomacular dysplasia 7 Atypical Gillespie syndrome associated with bilateral ptosis exotropia correctopia iris hypoplasia anterior capsular lens opacities foveal hypoplasia retinal vascular tortuosity and retinal hypopigmentation 8 Neurological signs are nystagmus mild craniofacial asymmetry axial hypotonia developmental delay and mild mental retardation 6 7 Marien P did not support the prevailing view of a global mental retardation as a cardinal feature of Gillespie syndrome but primarily reflect cerebellar induced neurobehavioral dysfunctions following disruption of the cerebrocerebellar anatomical circuitry that closely resembles the cerebellar cognitive and affective syndrome CeCAS 9 Congenital pulmonary stenosis and helix dysplasia can be associated 5 Genetics editGillespie syndrome is a heterogeneous disorder and can be inherited in either an autosomal dominant or recessive manner 4 6 Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome and only one copy of the gene is sufficient to cause the disorder when inherited from a parent who has the disorder citation needed Autosomal recessive inheritance means the defective gene responsible for the disorder is located on an autosome but two copies of the defective gene one inherited from each parent are required in order to be born with the disorder The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder citation needed PAX6 gene analysis can also be helpful to distinguish between autosomal dominant aniridia and Gillespie syndrome 5 However atypical Gillespie syndrome is associated mutation with PAX6 gene 2 8 To elucidate the underlying genetic defects karyotyping and the search for de novo translocations especially of chromosome X and 11 should be performed 5 This condition is caused by mutations in the inositol 1 4 5 trisphosphate receptor type 1 ITPR1 gene 10 This gene is located on the short arm of chromosome 3 3p26 1 Mutations in this gene have also been associated with spinocerebellar ataxia type 15 and 29 citation needed Diagnosis editBrain MRI shows vermis atrophy or hypoplasic 11 Cerebral and cerebellar atrophy with white matter changes in some cases 6 Treatment editThis section is empty You can help by adding to it July 2017 History edit1964 GILLESPIE FD first described in two siblings with aniridia cerebellar ataxia and mental retardation 1 1971 Sarsfield J K described more cases in a family with normal NCV and muscle biopsy 12 1997 Nelson J reported diffuse MRI abnormality in Cerebral and cerebellar atrophy with white matter changes suggested more diffuse disease 6 1998 Dollfus H reported a patient with a phenotype suggestive of a chromosomal abnormality 7 2008 Marien P found limited cognitive deficit that closely resembles the cerebellar cognitive and affective syndrome CeCAS 9 References edit a b c Gillespie FD Mar 1965 Aniridia cerebellar ataxia and oligophrenia in siblings Archives of Ophthalmology 73 3 338 341 doi 10 1001 archopht 1965 00970030340008 PMID 14246186 a b Online Mendelian Inheritance in Man OMIM 206700 a b synd 2006 at Who Named It a b Defreyn A Maugery J Chabrier S Coullet J Jan 2007 Syndrome de Gillespie un cas rare d aniridie congenitale Journal Francais d Ophthalmologie in French 30 1 e1 doi 10 1016 s0181 5512 07 89554 4 PMID 17287663 a b c d Kieslich M Vanselow K Wildhardt G Gebhardt B Weis R Bohles H Apr 2001 Present limitations of molecular biological diagnostics in Gillespie syndrome Klinische Padiatrie 213 2 47 49 doi 10 1055 s 2001 12875 PMID 11305191 S2CID 260206851 a b c d e f Nelson J Aug 1997 Gillespie syndrome a report of two further cases American Journal of Medical Genetics 71 2 134 8 doi 10 1002 sici 1096 8628 19970808 71 2 lt 134 aid ajmg3 gt 3 0 co 2 y PMID 9217210 a b c Dollfus H Mar 1998 Gillespie syndrome phenotype with a t X 11 p22 32 p12 de novo translocation American Journal of Ophthalmology 125 3 397 9 doi 10 1016 s0002 9394 99 80157 3 PMID 9512164 a b Ticho BH Hilchie Schmidt C Egel RT Traboulsi EI Howarth RJ Robinson D Dec 2006 Ocular findings in Gillespie like syndrome association with a new PAX6 mutation Ophthalmic Genetics 27 4 145 149 doi 10 1080 13816810600976897 PMID 17148041 S2CID 21415333 a b Marien P Brouns R Engelborghs S Wackenier P Verhoeven J Ceulemans B De Deyn PP Jan 2008 Cerebellar cognitive affective syndrome without global mental retardation in two relatives with Gillespie syndrome Cortex 44 1 54 67 doi 10 1016 j cortex 2005 12 001 PMID 18387531 S2CID 16768408 Paganini L Pesenti C Milani D Fontana L Motta S Sirchia SM Scuvera G Marchisio P Esposito S Cinnante CM Tabano SM Miozzo MR 2018 A novel splice site variant in ITPR1 gene underlying recessive Gillespie syndrome Am J Med Genet A doi 10 1002 ajmg a 38704 Boughamoura L Yacoub M Abroug M Chabchoub I Bouguezzi R Charfeddine L Amri F Essoussi A S Oct 2006 Gillespie syndrome 2 familial cases Archives de Pediatrie 13 10 1323 1325 doi 10 1016 j arcped 2006 06 028 PMID 16919425 Sarsfield JK Aug 1971 The syndrome of congenital cerebellar ataxia aniridia and mental retardation Developmental Medicine amp Child Neurology 13 4 508 11 doi 10 1111 j 1469 8749 1971 tb03057 x PMID 5558750 S2CID 28822017 External links editGillespie syndrome at MedlinePlus Retrieved from https en wikipedia org w index php title Gillespie syndrome amp oldid 1183900160, wikipedia, wiki, book, books, library,

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