Idiopathic Multicentric Osteolysis

Whyte, Michael P.; Murphy, William A.; Kleerekoper, Michael; Teitelbaum, Steven L.; Avioli, Louis V.

doi:10.1002/art.1780210313

Cited by 23 publications

(10 citation statements)

References 12 publications

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“…Associated abnormalities are found especially in the sporadic cases including facial features, spine deformities, clubfoot and pes cavus [24,32,34]. The unusual facial appearance includes frontal bossing, hyper-or hypotelorism, plathycephaly, maxillae hypoplasia, micrognathia, retrognathia, orbital hypoplasia, exopthalmus, prominent nasal bridge and high-arched palatum [6,32].…”

Section: Discussionmentioning

confidence: 99%

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

et al. 2004

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Section: Discussionmentioning

confidence: 99%

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

et al. 2004

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“…In some patients high erythrocyte sedimentation rates have been seen and high levels of C reactive protein6 8 12 and hydroxyproline in urine. '2 14 HLA typing has been performed in one family'4 but the results were not conclusive.…”

Section: Discussionmentioning

confidence: 95%

Primary idiopathic osteolysis: description of a family.

Naranjo¹,

Muniain²,

Vaquero³

et al. 1992

Annals of the Rheumatic Diseases

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A clinical, analytical, and radiological study was carried out on three members of the same family with multicentric idiopathic osteolysis.Transmission appeared to be via the dominant autosome present in the mother and two daughters. In the daughters osteolysis was seen in the carpal and tarsal bones, whereas in the mother radiology showed it to be in the phalanges of the hands and feet. This 18 year old woman has deformity in the flexion of the fifth fingers of both hands. Her delivery and subsequent development were normal with no history oftrauma. Her symptoms began with pain, slight swelling, and limitation of movement in her wrists at the age of 5 years, accentuated by slight traumas. She had occasional pain in her elbows, right shoulder, dorsal spine, left knee, and dorsum of the left foot, with slight swelling in the left knee and foot. There were no constitutional symptoms, but she was depressive from 14 years of age.On physical examination her blood pressure was 110/70 mmHg, her weight 45 kg, and height 155 cm. She was in good general health but was of low intelligence. Her gait was normal and her cervical spine slightly painful in left lateral flexion but with normal mobility. There was right convexity scoliosis of the dorsal rachis. Her wrists had a painful flexoextension limitation at 200 and decreased bilateral strength. The left ankle and midfoot were painful in planar flexion. There was pain when pressure was applied to the metatarsophalangeal joints of the left foot. She had also bilateral hallux valgus and feet cava (grade II) with claw feet.Her differential blood count, globular sedimentation rate, and blood and urine chemistry (creatinine, calcium, ;phosphorus, alkaline phosphatase, IgM rheumatoid factor, antinuclear antibodies, and mucopolysaccharides in urine) were normal.Radiological examination showed deformity in the flexion of both fifth fingers and carpal osteolysis and hypoplasia of the tufts of the distal phalanges (fig 1). Figure 2 shows the morphology of cava feet; the left foot was the most affected and was 1 cm shorter and narrower than the right. Osteolysis was present in the tufts of the bilateral distal phalanges and the tubular diameter of the left foot metatarsals was decreased. Dorsal scoliosis and right convexity of the rachis was seen. Spina bifida was classified as SI.

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“…After obtaining written consent sanctioned by the Human Research Protection Office at the Washington University School of Medicine, St. Louis, we studied 8 unrelated children with MCTO at Shriners Hospital for Children, St. Louis, USA (SHC) during the past 36 years [Whyte et al, 1978; Wenkert et al, 2007; Wenkert et al, 2008; Goldfarb et al, 2012]. DNA was available for seven of eight probands.…”

Section: Methodsmentioning

confidence: 99%

“…Multicentric carpotarsal osteolysis syndrome (MCTO, OMIM # 166300), also called idiopathic multicentric osteolysis with nephropathy, is an autosomal dominant (AD) disorder often arising spontaneously and causing carpal-tarsal destruction and renal failure [Shurtleff et al, 1964; Whyte et al, 1978]. We have cared collectively for nine unrelated children with sporadic (n = 8) or familial (n = 1) MCTO during the past 36 years [Whyte et al, 1978; Wenkert et al, 2007; Wenkert et al, 2008; Goldfarb et al, 2012].…”

Section: Introductionmentioning

confidence: 99%

“…We have cared collectively for nine unrelated children with sporadic (n = 8) or familial (n = 1) MCTO during the past 36 years [Whyte et al, 1978; Wenkert et al, 2007; Wenkert et al, 2008; Goldfarb et al, 2012]. In 2012, mutations within the single-exon MAFB [v-maf musculoaponeurotic fibrosarcoma oncogene ortholog B (avian)] were reported in 13 probands with MCTO [Zankl et al, 2012].…”

Section: Introductionmentioning

confidence: 99%

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Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis

Mumm

Huskey

Duan

et al. 2014

American J of Med Genetics Pt A

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Multicentric carpotarsal osteolysis syndrome (MCTO), an autosomal dominant disorder that often presents sporadically, features carpal-tarsal lysis frequently followed by nephropathy and renal failure. In 2012, mutations in the single-exon gene MAFB were reported in 13 probands with MCTO. MAFB is a negative regulator of RANKL-mediated osteoclastogenesis. We studied 9 MCTO patients (7 sporadic patients and one affected mother and son) for MAFB mutation. We PCR-amplified and selectively sequenced the MAFB region that contains the transactivation domain in this 323 amino acid protein, where mutations were previously reported for MCTO. We found 5 different heterozygous missense defects among 8 probands: c.176C>T, p.Pro59Leu; c.185C>T, p.Thr62Ile; c.206C>T, p.Ser69Leu (4 had this defect); c.209C>T, p.Ser70Leu; and c.211C>T, p.Pro71Ser. All 5 mutations are within a 13 amino acid stretch of the transactivation domain. Four were identical to the previously reported mutations. Our unique mutation (c.185C>T, p.Thr62Ile) involved the same domain. DNA available from 7 parents of the 7 sporadic patients did not show their child’s MAFB mutation. The affected mother and son had an identical defect. Hence, the mutations for 7/8 probands were suspected to have arisen spontaneously as there was no history of features of MCTO in either parent. Penetrance of MCTO seemed complete. Lack of nonsense or other truncating mutations suggested a dominant-negative pathogenesis. Our findings indicate that only a few transactivation domain-specific mutations within MAFB cause MCTO.

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Idiopathic Multicentric Osteolysis

Cited by 23 publications

References 12 publications

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

Inherited multicentric osteolysis with carpal-tarsal localisation mimicking juvenile idiopathic arthritis

Primary idiopathic osteolysis: description of a family.

Multicentric carpotarsal osteolysis syndrome is caused by only a few domain‐specific mutations in MAFB, a negative regulator of RANKL‐induced osteoclastogenesis

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