Skip to main content
Journal cover image

Sibling phenotype concordance in classical infantile Pompe disease.

Publication ,  Journal Article
Smith, WE; Sullivan-Saarela, JA; Li, JS; Cox, GF; Corzo, D; Chen, Y-T; Kishnani, PS
Published in: Am J Med Genet A
November 1, 2007

Pompe disease (acid-alpha-glucosidase deficiency) encompasses a clinical spectrum, ranging from severe infantile-onset disease with clinical symptoms appearing before 1 year of age with rapid progression to an early death, to late-onset disease with a much more variable age at onset and disease course. Sibling phenotype discordance has been reported for late-onset Pompe disease, but has not been studied in classical infantile disease. We reviewed the medical literature for affected sibships in which at least one sibling had clinical and pathology or biochemical findings consistent with infantile Pompe disease including symptoms beginning in infancy, early hypotonia, cardiomegaly documented by 6 months of age, and early death. The age at symptom onset, age at death, and clinical course were compared between probands and affected siblings. Our results showed that since 1931, publications document 13 families with 31 affected infants (11 probands; 20 affected siblings). The median age at symptom onset for all affected infants was 3 months (range 0-6 months) with significant correlation (R = 0.60, P = 0.04) between probands and affected siblings. The median age at death for all affected infants was 6 months (range 1.5-13 months); probands were slightly older at death than their siblings. The median length of disease course for all affected infants was 3 months (0-10 months) and was slightly longer for probands. Unlike late-onset Pompe disease, there appears to be minimal phenotypic and lifespan variation among siblings with infantile Pompe disease. This prognostic information is vital for families with affected infants and allows for appropriate genetic counseling.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

November 1, 2007

Volume

143A

Issue

21

Start / End Page

2493 / 2501

Location

United States

Related Subject Headings

  • Siblings
  • Phenotype
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Smith, W. E., Sullivan-Saarela, J. A., Li, J. S., Cox, G. F., Corzo, D., Chen, Y.-T., & Kishnani, P. S. (2007). Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A, 143A(21), 2493–2501. https://doi.org/10.1002/ajmg.a.31936
Smith, Wendy E., Jennifer A. Sullivan-Saarela, Jennifer S. Li, Gerald F. Cox, Deyanira Corzo, Yuan-Tsong Chen, and Priya S. Kishnani. “Sibling phenotype concordance in classical infantile Pompe disease.Am J Med Genet A 143A, no. 21 (November 1, 2007): 2493–2501. https://doi.org/10.1002/ajmg.a.31936.
Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen Y-T, et al. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A. 2007 Nov 1;143A(21):2493–501.
Smith, Wendy E., et al. “Sibling phenotype concordance in classical infantile Pompe disease.Am J Med Genet A, vol. 143A, no. 21, Nov. 2007, pp. 2493–501. Pubmed, doi:10.1002/ajmg.a.31936.
Smith WE, Sullivan-Saarela JA, Li JS, Cox GF, Corzo D, Chen Y-T, Kishnani PS. Sibling phenotype concordance in classical infantile Pompe disease. Am J Med Genet A. 2007 Nov 1;143A(21):2493–2501.
Journal cover image

Published In

Am J Med Genet A

DOI

ISSN

1552-4825

Publication Date

November 1, 2007

Volume

143A

Issue

21

Start / End Page

2493 / 2501

Location

United States

Related Subject Headings

  • Siblings
  • Phenotype
  • Infant
  • Humans
  • Glycogen Storage Disease Type II
  • 3202 Clinical sciences
  • 3105 Genetics
  • 1103 Clinical Sciences
  • 0604 Genetics