Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.
The association of two rare hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), was found in four patients from three families, apparently unrelated but living in the same geographical area. In order to test the hypothesis of a common ancestor, consanguinity within and among the families was checked using three different approaches: reconstruction of genealogical trees, typing of blood markers, and surname analysis. The results of the three types of analyses strengthen the hypothesis that, in at least two out of the three families, the genetic defect determining the TTD/XP phenotype is identical by descent, as a consequence of remote inbreeding. This implies that if two mutations are responsible for the two diseases they are at linked loci or affect the same gene.
Nuzzo
F
F
Istituo di Genetica Biochimica ed Evoluzionistica, CNR, Pavia, Italy.
Zei
G
G
Stefanini
M
M
Colognola
R
R
Santachiara
A S
AS
Lagomarsini
P
P
Marinoni
S
S
Salvaneschi
L
L
D001789:Blood Group Antigens / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004260:DNA Repair; D005260:Female; D008040:Genetic Linkage; D006201:Hair Diseases / Q000097:blood* / Q000150:complications / Q000235:genetics; D006801:Humans; D007057:Ichthyosis / Q000097:blood* / Q000150:complications / Q000235:genetics; D008607:Intellectual Disability / Q000097:blood / Q000150:complications / Q000235:genetics; D007558:Italy; D008297:Male; D010375:Pedigree; D014983:Xeroderma Pigmentosum / Q000097:blood* / Q000150:complications / Q000235:genetics
D001789:Blood Group Antigens