Uncommon IFITM5 mutation associated with severe skeletal deformity in osteogenesis imperfecta.
Ann Hum Genet
; 82(6): 477-481, 2018 11.
Article
en En
| MEDLINE
| ID: mdl-30039845
Osteogenesis imperfecta (OI) is the most common skeletal dysplasia, which predisposes to recurrent fractures and bone deformity and presents with wide clinical variability. More than 80% of OI cases are related to dominantly inherited mutations in COL1A1 or COL1A2. The rest of the cases, however, involve many other noncollagen genes, all of which are autosomal-recessively inherited, except for IFITM5 and WNT1, which are also associated with autosomal dominant OI. Since 2012, a single recurrent heterozygous mutation in IFITM5 (c.-14C>T) has been shown to underlie OI type V. Although this is the most common OI-causing mutation in IFITM5, a second, less common mutation in IFITM5, c.119C>T (p.Ser40Leu), has been identified, which is not associated with the OI type V phenotype. In this report, we describe the clinical and radiological features of a further patient with this uncommon mutation in IFITM5 (c.119C>T, p.Ser40Leu). The patient presented with prenatal signs of severe OI and developed extreme short stature with short and bowed limbs, relative macrocephaly, scoliosis, vertebral compression, and a hypoplastic thorax. He had global developmental delay, recurrent respiratory problems, and required special family care and multidisciplinary treatment. To date, all patients with the uncommon c.119C>T mutation have presented with severe OI, rather than OI type V. Thus, this report further strengthens the case for a genotype-phenotype correlation for IFITM5-related OI.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Osteogénesis Imperfecta
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Proteínas de la Membrana
Tipo de estudio:
Prognostic_studies
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Risk_factors_studies
Límite:
Child
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Child, preschool
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Ann Hum Genet
Año:
2018
Tipo del documento:
Article
País de afiliación:
Argentina
Pais de publicación:
Reino Unido