Universität zu Köln

Moosa, Shahida ORCID: 0000-0002-4463-3067, Haagerup, Annette, Gregersen, Pernille Axel, Petersen, Karin Kastberg, Altmueller, Janine, Thiele, Holger, Nuernberg, Peter, Cho, Tae-Joon ORCID: 0000-0001-8514-377X, Kim, Ok-Hwa, Nishimura, Gen, Wollnik, Bernd and Vogel, Ida ORCID: 0000-0002-1125-0393 (2017). Confirmation of CAGSSS syndrome as a distinct entity in a Danish patient with a novel homozygous mutation in IARS2. Am. J. Med. Genet. A, 173 (4). S. 1102 - 1109. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

Since the original description of the IARS2-related cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, skeletal dysplasia syndrome (CAGSSS; OMIM 616007) in an extended consanguineous family of French-Canadian descent, no further patients have been reported. IARS2 (OMIM 612801) encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family, and has been implicated in CAGSSS and a form of Leigh syndrome. Here, we report on a female Danish patient with a novel homozygous IARS2 mutation, p.Gly874Arg, who presented at birth with bilateral hip dislocation and short stature. At 3 months, additional dysmorphic features were noted and at 18 months her radiographic skeletal abnormalities were suggestive of an underlying spondyloepimetaphyseal dysplasia (SEMD). Retrospective analysis of the neonatal radiographs confirmed that the skeletal changes were present at birth. It was only with time that several of the other manifestations of the CAGSSS emerged, namely, cataracts, peripheral neuropathy, and hearing loss. Growth hormone deficiency has not (yet) manifested. We present her clinical features and particularly highlight her skeletal findings, which confirm the presence of a primary SEMD skeletal dysplasia in a growing list of mitochondrial-related disorders including CAGSSS, CODAS, EVEN-PLUS, and X-linked SEMD-MR syndromes.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Moosa, Shahida UNSPECIFIED orcid.org/0000-0002-4463-3067 UNSPECIFIED Haagerup, Annette UNSPECIFIED UNSPECIFIED UNSPECIFIED Gregersen, Pernille Axel UNSPECIFIED UNSPECIFIED UNSPECIFIED Petersen, Karin Kastberg UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Cho, Tae-Joon UNSPECIFIED orcid.org/0000-0001-8514-377X UNSPECIFIED Kim, Ok-Hwa UNSPECIFIED UNSPECIFIED UNSPECIFIED Nishimura, Gen UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED UNSPECIFIED UNSPECIFIED Vogel, Ida UNSPECIFIED orcid.org/0000-0002-1125-0393 UNSPECIFIED
URN:	urn:nbn:de:hbz:38-235810
DOI:	10.1002/ajmg.a.38116
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	173
Number:	4
Page Range:	S. 1102 - 1109
Date:	2017
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GROWTH-HORMONE DEFICIENCY; DEVELOPMENT SKELETAL DYSPLASIA; NEUROMUSCULAR INVOLVEMENT; INTRINSIC DISORDER; CHANGES SECONDARY; CODAS SYNDROME; PROTEASE; LONP1 Multiple languages Genetics & Heredity Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/23581