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Pelizaeus-Merzbacher disease in female carriers

MedGen UID:
1753109
•Concept ID:
C5438815
•
Disease or Syndrome
Synonym: Pelizaeus-Merzbacher disease in female carrier
SNOMED CT: Pelizaeus-Merzbacher disease in female carrier (1003881009)
Modes of inheritance:
X-linked recessive inheritance
MedGen UID:
375779
•Concept ID:
C1845977
•
Finding
Source: Orphanet
A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele.
See: This record
X-linked recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017224
Orphanet: ORPHA280229

Definition

Pelizaeus-Merzbacher disease (PMD) in female carriers is the presentation of PMD (see this term) in some women carrying mutations in the <i>PLP1</i> gene (Xq22). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPelizaeus-Merzbacher disease in female carriers

Professional guidelines

PubMed

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA.
Bridge PJ, MacLeod PM, Lillicrap DP
Am J Med Genet 1991 Mar 15;38(4):616-21. doi: 10.1002/ajmg.1320380423. PMID: 1676565

Recent clinical studies

Etiology

A longitudinal study of a family with adult-onset autosomal dominant leukodystrophy: Clinical, autonomic and neuropsychological findings.
Terlizzi R, Calandra-Buonaura G, Zanigni S, Barletta G, Capellari S, Guaraldi P, Donadio V, Cason E, Contin M, Poda R, Tonon C, Sambati L, Gallassi R, Liguori R, Lodi R, Cortelli P
Auton Neurosci 2016 Feb;195:20-6. Epub 2016 Feb 8 doi: 10.1016/j.autneu.2016.02.005. PMID: 26896090
Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease.
Lv Y, Cao LH, Pang H, Lu LN, Li JL, Fu Y, Qi SL, Luo Y, Li-Ling J
Genet Mol Res 2012 Aug 6;11(3):2035-44. doi: 10.4238/2012.August.6.7. PMID: 22911587
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
Hurst S, Garbern J, Trepanier A, Gow A
Genet Med 2006 Jun;8(6):371-8. doi: 10.1097/01.gim.0000223551.95862.c3. PMID: 16778599
Prenatal diagnosis in Pelizaeus-Merzbacher disease using RFLP analysis.
Mäenpää J, Lindahl E, Aula P, Savontaus ML
Clin Genet 1990 Feb;37(2):141-7. doi: 10.1111/j.1399-0004.1990.tb03491.x. PMID: 1968793
Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging?
Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A
Hum Genet 1988 Dec;80(4):393-4. doi: 10.1007/BF00273659. PMID: 3198119

Diagnosis

Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
Javadikooshesh S, Zaimkohan H, Pourghorban P, Bahramim F, Ebadi N
Iran J Med Sci 2021 Nov;46(6):493-497. doi: 10.30476/IJMS.2021.87126.1736. PMID: 34840390Free PMC Article
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E
Folia Neuropathol 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. PMID: 27179222
Combined genetic and imaging diagnosis for two large Chinese families affected with Pelizaeus-Merzbacher disease.
Lv Y, Cao LH, Pang H, Lu LN, Li JL, Fu Y, Qi SL, Luo Y, Li-Ling J
Genet Mol Res 2012 Aug 6;11(3):2035-44. doi: 10.4238/2012.August.6.7. PMID: 22911587
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
Hurst S, Garbern J, Trepanier A, Gow A
Genet Med 2006 Jun;8(6):371-8. doi: 10.1097/01.gim.0000223551.95862.c3. PMID: 16778599
Diagnosis of Pelizaeus-Merzbacher disease: detection of proteolipid protein gene copy number by real-time PCR.
Regis S, Grossi S, Lualdi S, Biancheri R, Filocamo M
Neurogenetics 2005 May;6(2):73-8. Epub 2005 Apr 13 doi: 10.1007/s10048-005-0214-7. PMID: 15827763

Therapy

Evidence for disease penetrance relating to CNV size: Pelizaeus-Merzbacher disease and manifesting carriers with a familial 11 Mb duplication at Xq22.
Carvalho CM, Bartnik M, Pehlivan D, Fang P, Shen J, Lupski JR
Clin Genet 2012 Jun;81(6):532-41. Epub 2011 Jun 20 doi: 10.1111/j.1399-0004.2011.01716.x. PMID: 21623770Free PMC Article
X inactivation phenotype in carriers of Pelizaeus-Merzbacher disease: skewed in carriers of a duplication and random in carriers of point mutations.
Woodward K, Kirtland K, Dlouhy S, Raskind W, Bird T, Malcolm S, Abeliovich D
Eur J Hum Genet 2000 Jun;8(6):449-54. doi: 10.1038/sj.ejhg.5200480. PMID: 10878666

Prognosis

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J
Mol Biol Rep 2019 Aug;46(4):4507-4516. Epub 2019 Jul 3 doi: 10.1007/s11033-019-04906-4. PMID: 31270756
Pelizaeus-Merzbacher disease in patients with molecularly confirmed diagnosis.
Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E
Folia Neuropathol 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. PMID: 27179222
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K
J Neurol 2014 Apr;261(4):752-8. Epub 2014 Feb 16 doi: 10.1007/s00415-014-7263-5. PMID: 24532200
Clinical findings in Pelizaeus-Merzbacher disease.
Golomb MR, Walsh LE, Carvalho KS, Christensen CK, DeMyer WE
J Child Neurol 2004 May;19(5):328-31. doi: 10.1177/088307380401900504. PMID: 15224705
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article

Clinical prediction guides

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Owczarek-Lipska M, Mulahasanovic L, Obermaier CD, Hörtnagel K, Neubauer BA, Korenke GC, Biskup S, Neidhardt J
Mol Biol Rep 2019 Aug;46(4):4507-4516. Epub 2019 Jul 3 doi: 10.1007/s11033-019-04906-4. PMID: 31270756
Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies.
Numata Y, Gotoh L, Iwaki A, Kurosawa K, Takanashi J, Deguchi K, Yamamoto T, Osaka H, Inoue K
J Neurol 2014 Apr;261(4):752-8. Epub 2014 Feb 16 doi: 10.1007/s00415-014-7263-5. PMID: 24532200
Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.
Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Quantifying the carrier female phenotype in Pelizaeus-Merzbacher disease.
Hurst S, Garbern J, Trepanier A, Gow A
Genet Med 2006 Jun;8(6):371-8. doi: 10.1097/01.gim.0000223551.95862.c3. PMID: 16778599
Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein.
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article

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