Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1.

Varote Shotelersuk, Wuttichart Kamolvisit, Nond Rojvachiranonda, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk

European journal of medical genetics 2020 Jun

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Craniofrontonasal syndrome (CFNS) is an X-linked disorder caused by mutations in EFNB1. Uncommonly and paradoxically, female patients with CFNS exhibit significantly more severe symptoms than male patients. This is explained by "cellular interference". Nevertheless, there have been a few reports of male patients severely affected with CFNS due to postzygotic mosaicism. Here, we demonstrated a male patient with severe CFNS. Whole exome sequencing showed that he harbored both wild type and nonsense mutation, c.253C > T (p.Gln85Ter), in the EFNB1 gene. Sanger sequencing of his leukocytes, buccal swab, and hair root revealed a variable level of mosaicism. This nonsense mutation is absent in his parents and has never been previously reported. Our findings expand the mutational spectrum of EFNB1 and substantiates that males with severely affected CFNS are mosaic. Copyright © 2020 Elsevier Masson SAS. All rights reserved.

Citation

Varote Shotelersuk, Wuttichart Kamolvisit, Nond Rojvachiranonda, Kanya Suphapeetiporn, Thantrira Porntaveetus, Vorasuk Shotelersuk. Severe craniofrontonasal syndrome in a male patient mosaic for a novel nonsense mutation in EFNB1. European journal of medical genetics. 2020 Jun;63(6):103924