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A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema

Bordbar, A; Maroofian, R; Ostergaard, P; Kashaki, M; Nikpour, S; Gordon, K; Crosby, A; Khosravi, P; Shojaei, A (2017) A homozygous loss-of-function mutation in PTPN14 causes a syndrome of bilateral choanal atresia and early infantile-onset lymphedema. Meta Gene, 14. pp. 53-58. ISSN 2214-5400 https://doi.org/10.1016/j.mgene.2017.07.006
SGUL Authors: Ostergaard, Pia

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Abstract

A homozygous truncating mutation in nonreceptor tyrosine phosphatase 14 (PTPN14) has recently been associated with an extremely rare autosomal recessive syndrome of congenital posterior choanal atresia and childhood-onset lymphedema. PTPN14 has been shown to interact directly with the vascular endothelial growth factor receptor 3 (VEGFR3), a receptor tyrosine kinase essential for lymphangiogenesis. Here we present an Iranian family with a single child affected by high-arched palate, congenital hypothyroidism, dysmorphic face, bilateral choanal atresia and infantile-onset lymphedema. Screening of the PTPN14 revealed a novel homozygous frameshift mutation in exon 4 predicted to result in premature truncation of the polypeptide product, which segregated with the disease phenotype. To our knowledge, this is the second family with “choanal atresia and lymphedema syndrome” to be reported worldwide. In contrast to the first reported family that showed lymphedema in late childhood, the patient described here displays lymphedema in her lower limbs at early infancy associated with growth delay, mild facial swelling, congenital hypothyroidism and some minor developmental abnormalities. This report confirms the causality of PTPN14 loss-of-function mutations and further expands the clinical phenotype of this rare genetic syndrome.

Item Type: Article
Additional Information: © 2017. This manuscript version is made available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Academic Structure > Molecular and Clinical Sciences Research Institute (MCS) > Cell Sciences (INCCCS)
Journal or Publication Title: Meta Gene
ISSN: 2214-5400
Dates:
DateEvent
December 2017Published
29 July 2017Published Online
22 July 2017Accepted
Publisher License: Creative Commons: Attribution-Noncommercial-No Derivative Works 4.0
URI: http://openaccess.sgul.ac.uk/id/eprint/109151
Publisher's version: https://doi.org/10.1016/j.mgene.2017.07.006

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