Type V osteogenesis imperfecta: a report of three cases in a triplets
10.3760/cma.j.cn113903-20230724-00035
- VernacularTitle:三胎妊娠的3例新生儿同患Ⅴ型先天性成骨不全
- Author:
Yanbin LI
1
;
Ling WANG
;
Xiaowen CHEN
;
Heng SU
;
Ping WANG
;
Mou WEI
Author Information
1. 广州市妇女儿童医疗中心新生儿科，广州 510000
- Keywords:
Osteogenesis imperfecta;
Type V osteogenesis imperfecta;
Interferon-induced transmembrane protein 5;
Newborn;
Triplets
- From:
Chinese Journal of Perinatal Medicine
2024;27(9):777-779
- CountryChina
- Language:Chinese
-
Abstract:
This article reported a set of triplets with type V osteogenesis imperfecta (OI) caused by heterozygous variation in the interferon-induced transmembrane protein 5 ( IFITM5) gene. The triplets developed shortness of breath and multiple fractures at 21, 16, and 17 d after birth, respectively. On theadmission, scattered speckled patterns and hard swelling were observed in all three triplets during physical examination; several blisters were found on the right wrist of the second triplet; the smallest triplet had scattered blisters and ulcers in the mouth, complicated by neonatal sepsis, shock, respiratory failure, necrotizing enterocolitis, and intracranial infection. Whole-exome sequencing identified a pathogenic mutation in the triplets, that was located in the 5'-untranslated region of the IFITM5 coding gene, where a base C was converted to T (c.-14C>T). IFITM5 gene of the triplets. IFITM5 gene mutation can result in type V OI, which is inherited in an autosomal dominant pattern. Based on the clinical phenotype caused by the variation in the IFITM5 gene and literature review, the triplets were diagnosed with congenital type V OI. After respiratory support, anti-infection treatment, and symptomatic support treatment, all three triplets were discharged with improved condition. They were followed up to the age of three years and their nutritional status were good. However, their gross motor development was slightly delayed, and they all experienced different degrees and sites of bone fractures again.
