Babeth van Ommeren, Maud Hoekstra, Koen van Gassen, Richard van Jaarsveld, Gijs van Haaften, Irene Mathijssen, Ruben Dammers, Marie-Lise van Veelen, Rolanda Baars, Jacques C. Giltay
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Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype
Craniotubular Dysplasia Ikegawa type is a sclerosing bone disorder recently identified in five patients from four independent Indian families. It is caused by homozygous or compound heterozygous mutations in TMEM53. Deficient TMEM53 leads to overactive BMP signaling which promotes bone formation. Here, we present another three siblings with intronic mutations in TMEM53, identified by exome sequencing, from a Caucasian family. All three siblings displayed skeletal and radiographic features, similar to the earlier described individuals. All our patients had additional features such as cardiac and urogenital anomalies. Our results confirm the phenotype of CTDI. We discuss whether the additional features in our patients are separate from CTDI or reflect a broader spectrum of the syndrome.
期刊介绍:
The American Journal of Medical Genetics - Part A (AJMG) gives you continuous coverage of all biological and medical aspects of genetic disorders and birth defects, as well as in-depth documentation of phenotype analysis within the current context of genotype/phenotype correlations. In addition to Part A , AJMG also publishes two other parts:
Part B: Neuropsychiatric Genetics , covering experimental and clinical investigations of the genetic mechanisms underlying neurologic and psychiatric disorders.
Part C: Seminars in Medical Genetics , guest-edited collections of thematic reviews of topical interest to the readership of AJMG .