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Pontocerebellar hypoplasia, type 12(PCH12)

MedGen UID:
1648343
•Concept ID:
C4748873
•
Disease or Syndrome
Synonyms: PCH12; PONTOCEREBELLAR HYPOPLASIA, TYPE 12
 
Gene (location): COASY (17q21.2)
 
Monarch Initiative: MONDO:0032643
OMIM®: 618266
Orphanet: ORPHA611256

Authors:
Allison Gregory  |  Susan Hayflick   view full author information

Clinical features

From HPO
Cerebellar hypoplasia
MedGen UID:
120578
•Concept ID:
C0266470
•
Congenital Abnormality
Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
See: Feature record | Search on this feature
Hypoplasia of the brainstem
MedGen UID:
334226
•Concept ID:
C1842688
•
Finding
Underdevelopment of the brainstem.
See: Feature record | Search on this feature
Cerebral hypoplasia
MedGen UID:
343321
•Concept ID:
C1855330
•
Finding
Underdevelopment of the cerebrum.
See: Feature record | Search on this feature
Micrognathia
MedGen UID:
44428
•Concept ID:
C0025990
•
Congenital Abnormality
Developmental hypoplasia of the mandible.
See: Feature record | Search on this feature
Flexion contracture
MedGen UID:
83069
•Concept ID:
C0333068
•
Anatomical Abnormality
A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.
See: Feature record | Search on this feature
Microcephaly
MedGen UID:
1644158
•Concept ID:
C4551563
•
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
See: Feature record | Search on this feature
Sloping forehead
MedGen UID:
346640
•Concept ID:
C1857679
•
Finding
Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPontocerebellar hypoplasia, type 12

Professional guidelines

PubMed

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F
Orphanet J Rare Dis 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. PMID: 24524299Free PMC Article

Recent clinical studies

Etiology

Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I
Orphanet J Rare Dis 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. PMID: 27430971Free PMC Article
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F
Orphanet J Rare Dis 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. PMID: 24524299Free PMC Article
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D
Orphanet J Rare Dis 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. PMID: 22452838Free PMC Article
A mild variant of pontocerebellar hypoplasia type 1 in a 12-year-old Indian boy.
Kalpana D, Parvathy L, Ahamed SM, Iype M, Kunju MP
Pediatr Neurol 2009 Apr;40(4):302-5. doi: 10.1016/j.pediatrneurol.2008.11.009. PMID: 19302945

Diagnosis

Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F
Orphanet J Rare Dis 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. PMID: 24524299Free PMC Article
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T
Arch Dis Child 2013 Dec;98(12):1004-7. Epub 2013 Sep 18 doi: 10.1136/archdischild-2013-304308. PMID: 24047924
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
Salman MS, Blaser S, Buncic JR, Westall CA, Héon E, Becker L
J Child Neurol 2003 Mar;18(3):220-5. doi: 10.1177/08830738030180031201. PMID: 12731647
Analysis and classification of cerebellar malformations.
Patel S, Barkovich AJ
AJNR Am J Neuroradiol 2002 Aug;23(7):1074-87. PMID: 12169461Free PMC Article

Prognosis

Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
Neurology 2015 Apr 28;84(17):1745-50. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001523. PMID: 25832664Free PMC Article
Natural course of pontocerebellar hypoplasia type 2A.
Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I
Orphanet J Rare Dis 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70. PMID: 24886362Free PMC Article
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F
Orphanet J Rare Dis 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. PMID: 24524299Free PMC Article
Infantile onset progressive cerebellar atrophy and anterior horn cell degeneration--a late onset variant of PCH-1?
Lev D, Michelson-Kerman M, Vinkler C, Blumkin L, Shalev SA, Lerman-Sagie T
Eur J Paediatr Neurol 2008 Mar;12(2):97-101. Epub 2007 Jul 30 doi: 10.1016/j.ejpn.2007.06.005. PMID: 17681808
Pontocerebellar hypoplasia type 1: new leads for an earlier diagnosis.
Salman MS, Blaser S, Buncic JR, Westall CA, Héon E, Becker L
J Child Neurol 2003 Mar;18(3):220-5. doi: 10.1177/08830738030180031201. PMID: 12731647

Clinical prediction guides

Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I
Orphanet J Rare Dis 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. PMID: 27430971Free PMC Article
Loss of PCLO function underlies pontocerebellar hypoplasia type III.
Ahmed MY, Chioza BA, Rajab A, Schmitz-Abe K, Al-Khayat A, Al-Turki S, Baple EL, Patton MA, Al-Memar AY, Hurles ME, Partlow JN, Hill RS, Evrony GD, Servattalab S, Markianos K, Walsh CA, Crosby AH, Mochida GH
Neurology 2015 Apr 28;84(17):1745-50. Epub 2015 Apr 1 doi: 10.1212/WNL.0000000000001523. PMID: 25832664Free PMC Article
Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations.
Kastrissianakis K, Anand G, Quaghebeur G, Price S, Prabhakar P, Marinova J, Brown G, McShane T
Arch Dis Child 2013 Dec;98(12):1004-7. Epub 2013 Sep 18 doi: 10.1136/archdischild-2013-304308. PMID: 24047924
Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient.
Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D
Orphanet J Rare Dis 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. PMID: 22452838Free PMC Article

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