Long‐term follow‐up findings in a Turkish girl with osteogenesis imperfecta type XX caused by a homozygous MESD variant

Osteogenesis imperfecta (OI) is a heterogeneous group of disorders with bone fragility. In 2019, homozygous pathogenic variants in MESD were described for the first time in five patients with severe form of OI. To date, 12 patients have been reported. The aim of this study is to report long‐term fol...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2022-05, Vol.188 (5), p.1639-1646
Main Authors: Uludağ Alkaya, Dilek, Uyguner, Zehra Oya, Güneş, Nilay, Tüysüz, Beyhan
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Body height
Diphosphonates
Female
Follow-Up Studies
Fractures
Homozygote
Humans
Humerus
Intellectual disabilities
Kyphosis
Long bone
MESD
Mutation
Occipital bone
Osteogenesis
Osteogenesis imperfecta
Osteogenesis Imperfecta - diagnosis
Osteogenesis Imperfecta - drug therapy
Osteogenesis Imperfecta - genetics
Patients
Scoliosis
Torticollis
whole exome sequencing
WNT signaling
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Summary:Osteogenesis imperfecta (OI) is a heterogeneous group of disorders with bone fragility. In 2019, homozygous pathogenic variants in MESD were described for the first time in five patients with severe form of OI. To date, 12 patients have been reported. The aim of this study is to report long‐term follow‐up findings of a girl with MESD variant. She had triangular face, sparse hair, wide fontanelle, blue sclera, softening of the occipital bone, congenital torticollis, and long fingers. Wormian bones, multiple rib and long bone fractures, and platyspondyly were detected in her skeletal radiographs. During the 21‐years follow‐up, intellectual disability, oligodontia, recurrent fractures, bowing of humerus, hip and knee contractures leading to crossing of the legs, swelling of the interphalangeal joints, and kyphoscoliosis were observed. Although the bisphosphonate treatment was started at 2.5 years of age, recurrent fractures continued to occur until 13 years of age. She lost her walking ability at 4.5 years of age. The final adult height was 128 cm (−6.0 SD). Homozygous c.631_632delAA (p.Lys211Glufs*19) variant in MESD was detected at 19 years of age. In conclusion, this study provides long‐term clinical and radiological findings in a patient with a very rare type of OI.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.62664