FH Tulsa-1 and -2: Two unique alleles for familial hypercholesterolemia presenting in an affected two-year-old African-American male
Journal Article
·
· American Journal of Medical Genetics
- Univ. of Oklahoma Health Services Center, Oklahoma City, OK (United States)
- Childrens Medical Center, Tulsa, OK (United States)
- Driscoll Children`s Hospital, Corpus Christi, TX (United States)
A two-year-old African American boy presented with cutaneous xanthomata and extreme hypercholesterolemia. Subsequent studies revealed that the LDL-cholesterol was 1,001 mg/dl and apoB 507 mg/dl. LDL-receptor activity was almost undetectable, which is compatible with the finding of two newly described defective alleles on exon 4 of the LDL-receptor gene coding for part of the ligand-binding domain. One allele contained a 21 base-pair insertion from codon 200 to 207 whereas the other had a point mutation at codon 207. The rarity of genes for FH reported in individuals of African ancestry is discussed. 16 refs., 2 figs., 2 tabs.
- Sponsoring Organization:
- USDOE
- OSTI ID:
- 447080
- Journal Information:
- American Journal of Medical Genetics, Journal Name: American Journal of Medical Genetics Journal Issue: 3 Vol. 59; ISSN 0148-7299; ISSN AJMGDA
- Country of Publication:
- United States
- Language:
- English
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