Mutations in <i>FKBP10</i> cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Shaheen, Ranad; Al‐Owain, Mohammed; Faqeih, Eissa; Al‐Hashmi, Nadia; Awaji, Ali; Al-Zayed, Zayed

doi:10.1002/ajmg.a.34025

Cited by 73 publications

(61 citation statements)

References 29 publications

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“…Similarly, Shaheen et al 5,6 described two brothers with Bruck syndrome. In the neonatal period, the index patient had severe fl exion deformity of knees, ankles, and, to a lesser extent, elbows.…”

Section: Discussionmentioning

confidence: 87%

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Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Dhaubhadel

Baniya

Joshi

et al. 2018

J. Nepal Paedtr. Soc.

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Bruck syndrome is a very rare autosomal recessive syndrome consisting of bone fragility and congenital joint contractures.It is considered as a combination of arthrogryposis multiplex congenita and osteogenesis imperfecta, while some consider it as the autosomal recessive variant of osteogenesis imperfecta. According to the genotype, it has been classified into types 1 and 2. To our knowledge, only about 28 patients of this syndrome have been reported so far worldwide with none been reported from Nepal. Here, we present a patient with generalized osteopenia, bilateral femur fracture and congenital joint contractures of distal extremities.

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Section: Discussionmentioning

confidence: 87%

“…BS has been classifi ed into types 1 and 2 which are clinically indistinguishable 6 . BS type 2 has been linked to mutations in PLOD2 7,8 .…”

Section: Discussionmentioning

confidence: 99%

Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Dhaubhadel

Baniya

Joshi

et al. 2018

J. Nepal Paedtr. Soc.

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“…[20] In this context, homozygosity for a specific nucleotide insertion, NM_021939.3:c.831dupC, in the FKBP10 gene has been demonstrated in OI-3 patient populations indigenous to Europe, [10][11][12][13] Asia, [21] Africa [13,18] and the Middle East. [12] …”

Section: Researchmentioning

confidence: 99%

“…[8] Although OI-3 is rare, studies in affected persons from different parts of the world have revealed causative mutations in several genes: CRTAP, P3H1, FKBP10, PPIB, SERPINH1, SERPINF1, BMP1, SP7, WNT1, TMEM38B, PLOD2 and CREB3L1. [9] Mutations in FKBP10, which encodes FKBP65, have been reported in affected persons of Turkish, Mexican-American, [10] German, [11] Saudi Arabian, [12] indigenous black South African, [13] Indonesian, [14] Egyptian, [15] Italian, [16] Palestinian, [17] Lebanese, Sudanese, [18] Samoan, North Ameri can [17,19] and Chinese ancestry. [20] In this context, homozygosity for a specific nucleotide insertion, NM_021939.3:c.831dupC, in the FKBP10 gene has been demonstrated in OI-3 patient populations indigenous to Europe, [10][11][12][13] Asia, [21] Africa [13,18] and the Middle East.…”

Section: Researchmentioning

confidence: 99%

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

et al. 2017

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Corresponding author: A Vorster (vorster@sun.ac.za)Background. A relatively high frequency of autosomal recessively inherited osteogenesis imperfecta (OI) type 3 (OI-3) is present in the indigenous black southern African population. Affected persons may be severely handicapped as a result of frequent fractures, progressive deformity of the tubular bones and spinal malalignment. Objective. To delineate the molecular basis for the condition. Methods. Molecular investigations were performed on 91 affected persons from seven diverse ethnolinguistic groups in this population. Results. Following polymerase chain reaction amplification and direct cycle sequencing, FKBP10 mutations were identified in 45.1% (41/91) OI-3-affected persons. The homozygous FKBP10 c.831dupC frameshift mutation was confirmed in 35 affected individuals in the study cohort. Haplotype analysis suggests that this mutation is identical among these OI-3-affected persons by descent, thereby confirming that they had a common ancestor. Compound heterozygosity of this founder mutation was observed, in combination with three different deleterious FKBP10 mutations, in six additional persons in the cohort. Four of these individuals had the c.831delC mutation. Conclusion. The burden of the disorder, both in frequency and severity, warrants the establishment of a dedicated service for molecular diagnostic confirmation and genetic management of persons and families with OI in southern Africa.

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“…Выявлены му-тации, приводящие к нарушению как первичной цепи коллагена, так и его посттрансляционного формирования [5][6][7][8].…”

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Bruck syndrome: a case report

Buklaev

Степанович²,

Костик

et al. 2015

Pediatr Traum Orthop Reconstr Surg

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2 ГБОУ ВПО «Санкт-Петербургский государственный педиатрический медицинский универ-ситет», Санкт-Петербург В статье приводится описание клинического случая синдрома Брука у пациента грудного возраста. Клини-ко-рентгенологическая картина демонстрирует наличие системного остеопороза с патологическими пере-ломами, контрактуры локтевых, коленных, голеностопных суставов, задержку физического и двигательно-го развития, признаки гипоплазии некоторых групп мышц. Также имеется правосторонняя врожденная мышечная кривошея. При рентгенографии выявлены умеренная антекурвационная деформация голеней и бедер, истончение кортикального слоя. Лабораторные данные показали отклонения от нормы только со стороны бета-кросслапс в сторону увеличения. Проводится лечение по поводу остеопороза ингибиторами остеокластической резорбции (памидронатом) с положительным эффектом и сгибательных контрактур локтевых суставов гипсовыми повязками с дис-тракционным устройством также с положительным эффектом.Ключевые слова: синдром Брука, контрактуры суставов, остеопороз, дети.

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Mutations in FKBP10 cause both Bruck syndrome and isolated osteogenesis imperfecta in humans

Cited by 73 publications

References 29 publications

Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Bruck Syndrome: A Rare Disorder in New-Born with Fractures and Contractures

Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10

Bruck syndrome: a case report

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