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Case Reports
. 2025 Feb;197(2):e63870.
doi: 10.1002/ajmg.a.63870. Epub 2024 Sep 20.

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype

Babeth van Ommeren  1 , Maud Hoekstra  2 , Koen van Gassen  1 , Richard van Jaarsveld  1 , Gijs van Haaften  1 , Irene Mathijssen  3 , Ruben Dammers  4 , Marie-Lise van Veelen  4 , Rolanda Baars  5 , Jacques C Giltay  1
Affiliations
Case Reports

Craniotubular Dysplasia Ikegawa Type: Further Delineation of the Phenotype

Babeth van Ommeren et al. Am J Med Genet A. 2025 Feb.

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.

Keywords: BMP pathway; TMEM53; WNT pathway; skelet dysplasia.

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