Variable clinical expression of an identical mutation in the ATP7A gene for Menkes disease/occipital horn syndrome in three affected males in a single family.
Two maternal half-brothers presented with huge cephalic hematoma, fatal in one. Skin morphology disclosed lack of elastic fibres. Their maternal uncle is moderately mentally handicapped and has extensive connective tissue disorders. In all these patients, an identical missense mutation in the ATP7A gene was found and confirmed Menkes' disease.
Borm
Bettina
B
Department of Pediatrics, Klinikum Neukölln, Berlin, Germany.
Møller
Lisbeth Birk
LB
Hausser
Ingrid
I
Emeis
Michael
M
Baerlocher
Kurt
K
Horn
Nina
N
Rossi
Rainer
R
D000251:Adenosine Triphosphatases / Q000235:genetics*; D000328:Adult; D027682:Cation Transport Proteins / Q000235:genetics*; D003300:Copper / Q000097:blood; D000073840:Copper-Transporting ATPases; D004252:DNA Mutational Analysis; D006801:Humans; D007223:Infant; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000235:genetics*; D020125:Mutation, Missense; D011993:Recombinant Fusion Proteins / Q000235:genetics*
D027682:Cation Transport Proteins; D011993:Recombinant Fusion Proteins; D003300:Copper; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases