TY - JOUR
T1 - Craniotubular Dysplasia Ikegawa Type
T2 - Further Delineation of the Phenotype
AU - van Ommeren, Babeth
AU - Hoekstra, Maud
AU - van Gassen, Koen
AU - van Jaarsveld, Richard
AU - van Haaften, Gijs
AU - Mathijssen, Irene
AU - Dammers, Ruben
AU - van Veelen, Marie-Lise
AU - Baars, Rolanda
AU - Giltay, Jacques C.
N1 - Publisher Copyright:
© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.
PY - 2024/9/20
Y1 - 2024/9/20
N2 - 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.
AB - 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.
UR - https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=eur_pure&SrcAuth=WosAPI&KeyUT=WOS:001315922700001&DestLinkType=FullRecord&DestApp=WOS_CPL
U2 - 10.1002/ajmg.a.63870
DO - 10.1002/ajmg.a.63870
M3 - Article
C2 - 39300972
SN - 1552-4825
JO - American Journal of Medical Genetics Part A
JF - American Journal of Medical Genetics Part A
ER -