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Null syndrome

MedGen UID:
1740046
•Concept ID:
C5439441
•
Disease or Syndrome
Synonyms: null syndrome; Pelizaeus-Merzbacher disease null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome
SNOMED CT: PLP1 null syndrome (1003447007); Null syndrome (1003447007); Pelizaeus-Merzbacher disease null syndrome (1003447007)
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:0017225
Orphanet: ORPHA280234

Definition

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNull syndrome

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

Recent clinical studies

Etiology

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.
Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
A novel PLP1 mutation further expands the clinical heterogeneity at the locus.
Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA
Can J Neurol Sci 2012 Mar;39(2):220-4. doi: 10.1017/s0317167100013263. PMID: 22343157
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273
Anti-Rh 29 in a primigravida with rhesus null syndrome resulting in haemolytic disease of the newborn.
Gabra GS, Bruce M, Watt A, Mitchell R
Vox Sang 1987;53(3):143-6. doi: 10.1111/j.1423-0410.1987.tb04938.x. PMID: 3120413
Red cell membrane and cation deficiency in Rh null syndrome.
Ballas SK, Clark MR, Mohandas N, Colfer HF, Caswell MS, Bergren MO, Perkins HA, Shohet SB
Blood 1984 May;63(5):1046-55. PMID: 6324926

Diagnosis

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
In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.
Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
Red cell membrane and cation deficiency in Rh null syndrome.
Ballas SK, Clark MR, Mohandas N, Colfer HF, Caswell MS, Bergren MO, Perkins HA, Shohet SB
Blood 1984 May;63(5):1046-55. PMID: 6324926

Therapy

Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.
Yaswen L, Diehl N, Brennan MB, Hochgeschwender U
Nat Med 1999 Sep;5(9):1066-70. doi: 10.1038/12506. PMID: 10470087

Prognosis

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273

Clinical prediction guides

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
In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.
Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273

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