Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI-Reference-Cited by-同舟云学术

Additional findings of tibial dysplasia in a male with orofaciodigital syndrome type XVI

Published:2022-03-31 Issue:1 Volume:9 Page:
ISSN:2054-345X
Container-title:Human Genome Variation
language:en
Short-container-title:Hum Genome Var

Author:

Chinen Yasutsugu^ORCID,Nakamura Sadao,Yanagi Kumiko,Kaneshi Takuya,Goya Hideki,Yoshida Tomohide,Satou Kazuhito,Kaname Tadashi^ORCID,Naritomi Kenji^ORCID,Nakanishi Koichi^ORCID

Abstract

AbstractWe describe the case of a male patient with orofaciodigital (OFD) syndrome type XVI with a homozygous variant of TMEM107 (p.Phe106del) and the additional findings of tibial dysplasia, which is a pivotal finding of OFD syndrome type IV. His family history included two fetuses with anencephaly with or without cleft lip/palate and polydactyly with no genetic information. Careful attention should be given to the interpretation of this rare pattern.

Funder

Japan Agency for Medical Research and Development

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Biochemistry

Link

https://www.nature.com/articles/s41439-022-00187-9.pdf

Reference14 articles.

1. Gurrieri, F. et al. Oral-facial-digital syndromes: review and diagnostic guidelines. Review and diagnostic guidelines. Am. J. Med. Genet. 143A, 3314–3323 (2007).

2. Shylo, N. A. et al. TMEM107 is a critical regulator of ciliary protein composition and is mutated in orofaciodigital syndrome. Hum. Mutat. 37, 155–159 (2016).

3. Lambacher, N. J. et al. TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome. Nat. Cell Biol. 18, 122–131 (2016).

4. Bruel, A. L. et al. Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. J. Med. Genet. 54, 371–380 (2017).

5. Shaheen, R. et al. Identification of a novel MKS locus defined by TMEM107 mutation. Hum. Mol. Genet. 24, 5211–5218 (2015). 2015.

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