Gene: [11q25/HJCD] histiocytosis with joint contractures and sensorineural deafness (Faisalabad);


COM

Using autozygosity mapping, a homozygous region of approximately 1 cM at 11q25 was identified in affected individuals. A maximum 2-point lod score of 3.42 (theta = 0.00) was obtained with marker D11S968 (Moynihan-1998)."

FOG

The single pedigree ( originating from Pakistan) described by Moynihan-1998 was consistent with autosomal recessive inheritance."

REF

PAT,LIN,FOG "Moynihan LM &: AJHG, 62, N5, 1123-1128, 1998

KEY

neu, bone

CLA

unknown, basic

LOC

11 q25

MIM

MIM: 602782