Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype

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

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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Abstract

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.
Original languageEnglish
Number of pages7
JournalAmerican Journal of Medical Genetics Part A
DOIs
Publication statusE-pub ahead of print - 20 Sept 2024

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Publisher Copyright:
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.

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