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Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy

Title
Severe hypotonia and postnatal growth impairment in a girl with a missense mutation in COL1A1: Implication of expanded phenotypic spectrum of type I collagenopathy
Authors
Lee J.S.Seo J.Cho A.Lim B.C.Choi M.Kim J.-W.Kim O.-H.Cho T.-J.Chae J.-H.
Ewha Authors
조안나
SCOPUS Author ID
조안나scopus
Issue Date
2017
Journal Title
Brain and Development
ISSN
0387-7604JCR Link
Citation
vol. 39, no. 9, pp. 799 - 803
Keywords
COL1A1DysmorphismOsteogenesis imperfectaType I collagenopathyWhole-exome sequencing
Publisher
Elsevier B.V.
Indexed
SCI; SCIE; SCOPUS WOS scopus
Abstract
Background It is known that type I collagenopathy has a broad-spectrum phenotypic variability. Here, we report a case of a Korean girl with a heterozygous COL1A1 mutation who had an atypical presentation. Case presentation A 26-month-old girl presented with delayed motor development and failure to thrive. She had severe growth retardation. She exhibited right-sided plagiocephaly, blue sclerae, and facial dysmorphism, including a small pointed chin, frontal bossing, and a triangular face, but had microcephaly. Whole-exome sequencing revealed a novel de novo heterozygous sequence variant in COL1A1 (p.Gly1127Asp), which was validated by Sanger sequencing. Radiological finding showed generalized osteoporosis with progressive scoliosis of the spine without evidence of platyspondyly related to fractures and bowing of the long bones, and markedly delayed carpal bone age. Muscle pathology showed a marked size variation of myofibers and selective type 1 atrophy. Conclusions This study expanded the clinical and genetic spectrum of type I collagenopathy with a COL1A1 variant. Therefore, we suggest that type I collagenopathy should be considered in the patients who have some features of osteogenesis imperfecta simultaneously with atypical features such as facial dysmorphism. © 2017
DOI
10.1016/j.braindev.2017.04.020
Appears in Collections:
의과대학 > 의학과 > Journal papers
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