Autosomal dominant B-cell immunodeficiency, distal limb anomalies and urogenital malformations (BILU syndrome) - report of a second family.
A family with an unusual combination of B-cell immunodeficiency, distal limb abnormalities, genitourinary malformations, and mild dysmorphic features has recently been described. Here, we report a second family with similar features, which also shows autosomal dominant inheritance. In affected individuals from both families, sequence analysis of candidate gene HOXA13 did not identify a mutation, and there was no evidence of a microdeletion involving either HOXA13 or the HOXA cluster as a whole. We further delineate the phenotype of this condition in females and add weight to the observation that this is a true syndromic association.
Tischkowitz
M
M
Clinical Genetics Unit, Institute of Child Health, London, UK. mtischkowitz@doctors.org.uk
Goodman
F
F
Koliou
M
M
Webster
D
D
Edery
P
P
Jones
A
A
Wilson
L C
LC
D000328:Adult; D001402:B-Lymphocytes / Q000276:immunology*; D005260:Female; D005532:Foot Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007223:Infant; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011859:Radiography; D013577:Syndrome; D014564:Urogenital Abnormalities / Q000235:genetics*
D018398:Homeodomain Proteins; C099959:homeobox protein HOXA13; C088144:HoxA protein