Conradi-Hünermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects).

摘要: Summary Background  There is confusion in the literature concerning disorders caused by EBP (emopamil-binding protein) mutations males. Objectives  To study clinical and genetic differences males affected either with Conradi–Hunermann–Happle (CHH) syndrome (X-linked dominant chondrodysplasia punctata, CDPX2) or a nonmosaic, X-linked recessive disorder for which we propose acronymic term MEND (male neurological defects). Methods  We report 7-year-old boy history of transient scaly erythematous lesions on his limbs, trunk scalp soon after birth. DNA was isolated from ethylenediamine tetraacetic acid-blood samples patient four coding exons gene were amplified polymerase chain reaction. review all published cases CHH elaborate between syndrome. Results  found at position 33 variant c.33C>A leading to same nonsense mutation p.Y11X that had previously occurred de novo female typical manifestations syndrome. When known male reviewed, striking nosological difference mosaic nonmosaic phenotypes evident. Clear-cut criteria are elaborated distinguish syndrome. Conclusions  Because outcome prognosis different it important represents phenotype, those trait.