Universität zu Köln

Coppens, Sandra ORCID: 0000-0001-9155-7506, Desmyter, Laurence, Koch, Manuel ORCID: 0000-0002-2962-7814, Oezcelik, Semra, O'Heir, Emily, Van Bogaert, Patrick, Vilain, Catheline and Christiaens, Florence (2022). Ehlers-Danlos/myopathy overlap syndrome caused by a large de novo deletion in COL12A1. Am. J. Med. Genet. A, 188 (5). S. 1556 - 1562. HOBOKEN: WILEY. ISSN 1552-4833

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Abstract

Autosomal dominant and recessive mutations in COL12A1 cause the Ehlers-Danlos/myopathy overlap syndrome. Here, we describe a boy with fetal hypokinesia, severe neonatal weakness, striking hyperlaxity, high arched palate, retrognathia, club feet, and pectus excavatum. His motor development was initially delayed but muscle strength improved with time while hyperlaxity remained very severe causing recurrent joint dislocations. Using trio exome sequencing and a copy number variation (CNV) analysis tool, we identified an in-frame de novo heterozygous deletion of the exons 45 to 54 in the COL12A1 gene. Collagen XII immunostaining on cultured skin fibroblasts demonstrated intracellular retention of collagen XII, supporting the pathogenicity of the deletion. The phenotype of our patient is slightly more severe than other cases with dominantly acting mutations, notably with the presence of fetal hypokinesia. This case highlights the importance of CNVs analysis in the COL12A1 gene in patients with a phenotype suggesting Ehlers-Danlos/myopathy overlap syndrome.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Coppens, Sandra UNSPECIFIED orcid.org/0000-0001-9155-7506 UNSPECIFIED Desmyter, Laurence UNSPECIFIED UNSPECIFIED UNSPECIFIED Koch, Manuel UNSPECIFIED orcid.org/0000-0002-2962-7814 UNSPECIFIED Oezcelik, Semra UNSPECIFIED UNSPECIFIED UNSPECIFIED O'Heir, Emily UNSPECIFIED UNSPECIFIED UNSPECIFIED Van Bogaert, Patrick UNSPECIFIED UNSPECIFIED UNSPECIFIED Vilain, Catheline UNSPECIFIED UNSPECIFIED UNSPECIFIED Christiaens, Florence UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-683647
DOI:	10.1002/ajmg.a.62653
Journal or Publication Title:	Am. J. Med. Genet. A
Volume:	188
Number:	5
Page Range:	S. 1556 - 1562
Date:	2022
Publisher:	WILEY
Place of Publication:	HOBOKEN
ISSN:	1552-4833
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language COLLAGEN-XII; SPLICE VARIANTS; MUTATIONS Multiple languages Genetics & Heredity Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/68364