Universität zu Köln

Sowada, Nadine, Hashem, Mais Omar, Yilmaz, Ruestem, Hamad, Muddathir, Kakar, Naseebullah, Thiele, Holger, Arold, Stefan T., Bode, Harald, Alkuraya, Fowzan S. and Borck, Guntram (2017). Mutations of PTPN23 in developmental and epileptic encephalopathy. Hum. Genet., 136 (11-12). S. 1455 - 1462. NEW YORK: SPRINGER. ISSN 1432-1203

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Abstract

Developmental and epileptic encephalopathies (DEE) are a heterogeneous group of neurodevelopmental disorders with poor prognosis. Recent discoveries have greatly expanded the repertoire of genes that are mutated in epileptic encephalopathies and DEE, often in a de novo fashion, but in many patients, the disease remains molecularly uncharacterized. Here, we describe a new form of DEE in patients with likely deleterious biallelic variants in PTPN23. The phenotype is characterized by early onset drug-resistant epilepsy, severe and global developmental delay, microcephaly, and sometimes premature death. PTPN23 encodes a tyrosine phosphatase with strong brain expression, and its knockout in mouse is embryonically lethal. Structural modeling supports a deleterious effect of the identified alleles. Our data suggest that PTPN23 mutations cause a rare severe form of autosomal-recessive DEE in humans, a finding that requires confirmation.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Sowada, Nadine UNSPECIFIED UNSPECIFIED UNSPECIFIED Hashem, Mais Omar UNSPECIFIED UNSPECIFIED UNSPECIFIED Yilmaz, Ruestem UNSPECIFIED UNSPECIFIED UNSPECIFIED Hamad, Muddathir UNSPECIFIED UNSPECIFIED UNSPECIFIED Kakar, Naseebullah UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Arold, Stefan T. UNSPECIFIED UNSPECIFIED UNSPECIFIED Bode, Harald UNSPECIFIED UNSPECIFIED UNSPECIFIED Alkuraya, Fowzan S. UNSPECIFIED UNSPECIFIED UNSPECIFIED Borck, Guntram UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-212199
DOI:	10.1007/s00439-017-1850-3
Journal or Publication Title:	Hum. Genet.
Volume:	136
Number:	11-12
Page Range:	S. 1455 - 1462
Date:	2017
Publisher:	SPRINGER
Place of Publication:	NEW YORK
ISSN:	1432-1203
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language HD-PTP/PTPN23; COMPONENT; COMPLEX Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/21219