Autosomal dominant syndrome resembling Coffin-Siris syndrome.
Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature.
Flynn
Maureen A
MA
Center for Human Genetics, Boston University School of Medicine, Boston, Massachusetts 02118, USA.
Milunsky
Jeff M
JM
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D004967:Estrogens / Q000032:analysis; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000000981:diagnostic imaging; D005640:Follicle Stimulating Hormone / Q000032:analysis; D005799:Genes, Dominant; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007563:Jamaica / Q000208:ethnology; D009264:Nails, Malformed / Q000235:genetics* / Q000473:pathology; D009679:Nuclear Family; D011859:Radiography; D013577:Syndrome
D004967:Estrogens; D005640:Follicle Stimulating Hormone