U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy.
Dimartino P, Zadorozhna M, Yumiceba V, Basile A, Cani I, Melo US, Henck J, Breur M, Tonon C, Lodi R, Brusco A, Pippucci T, Koufi FD, Boschetti E, Ramazzotti G, Manzoli L, Ratti S, Pinto E Vairo F, Delatycki MB, Vaula G, Cortelli P, Bugiani M, Spielmann M, Giorgio E
Ann Neurol 2024 Nov;96(5):855-870. Epub 2024 Jul 30 doi: 10.1002/ana.27038. PMID: 39078102
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

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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Reviews

    Related information

    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...