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Evaluation of a patient with classical Ehlers‐Danlos syndrome due to a 9q34 duplication affecting COL5A1
Author(s) -
Kuroda Yukiko,
Ohashi Ikuko,
Naruto Takuya,
Ida Kazumi,
Enomoto Yumi,
Saito Toshiyuki,
Nagai Junichi,
Kurosawa Kenji
Publication year - 2018
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/cga.12277
Subject(s) - ehlers–danlos syndrome , haploinsufficiency , joint hypermobility , gene duplication , exon , comparative genomic hybridization , connective tissue disorder , genetics , phenotype , medicine , biology , gene , anatomy , dermatology , pathology , genome
Ehlers‐Danlos syndrome classical type is a connective tissue disorder characterized by skin hyperextensibility, atrophic scarring, and joint hypermobility. The condition typically results from mutations in COL5A1 or COL5A2 leading to the functional haploinsufficiency. Here, we report of a 24‐year‐old male with mild intellectual disability, dysmorphic features, and a phenotype consistent with Ehlers‐Danlos syndrome classical type. A copy number variant‐calling algorithm from panel sequencing data identified the deletions exons 2–11 and duplications of exons 12–67 within COL5A1 . Array comparative genomic hybridization confirmed a 94 kb deletion at 9q34.3 involving exons 2–11 of COL5A1 , and a 3.4 Mb duplication at 9q34.3 involving exons 12–67 of COL5A1 .