Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

Eason, John; Hall, Christine; Trounce, J Q

doi:10.1136/jmg.32.3.234

Cited by 7 publications

(6 citation statements)

References 7 publications

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“…Three cases reported as MOPD I share some of the facial and musculoskeletal features but differ in significant ways such as arachnodactyly, large ears, corneal clouding and hirsutism (9); generalized renal tubular leakage with persistent hyponatremia, hypokalemia, hypocalcemia, and hypophosphatemia, and normal scalp hair (13); and osteoporosis, multiple fractures, hepatosplenomegaly, cholestasis without evidence of storage disease, focal renal medullary dysplasia, and normal scalp hair (14). The probable presence of varied metabolic abnormalities in these three reports does not appear to be consistent with the previously observed phenotypes of MOPD I. Genotyping of these cases for mutations in RNU4ATAC and other microcephalic primordial dwarfism (MPD) genes will be helpful in clarifying the true extent of the MOPD I phenotype.…”

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confidence: 99%

“…It was subsequently suggested that types I and III were part of the same clinical spectrum with subtle variations among brain anomalies and radiographic changes (4); the two types have generally been combined since that time. Only 31 individuals with MOPD I/III from 25 families worldwide were reported in the literature through to 2010 (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20).…”

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Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Nagy

Albrecht³

et al. 2011

Clinical Genetics

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Microcephalic osteodysplastic primordial dwarfism type I (MOPD I) is a rare autosomal recessive developmental disorder characterized by extreme intrauterine growth retardation, severe microcephaly, central nervous system abnormalities, dysmorphic facial features, skin abnormalities, skeletal changes, limb deformations, and early death. Recently, mutations in the RNU4ATAC gene, which encodes U4atac, a small nuclear RNA that is a crucial component of the minor spliceosome, were found to cause MOPD I. MOPD I is the first disease known to be associated with a defect in small nuclear RNAs. We describe here the clinical and molecular data for 17 cases of MOPD I, including 15 previously unreported cases, all carrying biallelic mutations in the RNU4ATAC gene.

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Section: Resultsmentioning

confidence: 99%

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confidence: 99%

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Nagy

Albrecht³

et al. 2011

Clinical Genetics

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“…Malformations of the central nervous system have been reported [Winter et al, 1985;Haan et al, 1989;Meinecke and Passarge, 1991; Table III], such as abnormalities of migration, neuronal heterotopias, partial or complete agenesis of the corpus callosum, hypoplastic frontal lobes, and vermis agenesis. Tetralogy of Fallot and renal tubular leakage were described in single cases [Majewski and Spranger, 1976;Eason et al, 1995]. The patient reported by Van Maldergem et al [1990] exhibited unusual manifestations such as corneal clouding, arachnodactyly, and general hirsutism.…”

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confidence: 99%

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature

et al. 1998

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Microcephalic and osteodysplastic primordial dwarfism (MODP) types I, II, and III were defined by Majewski et al. in 1982. This group of syndromes was characterized by intrauterine growth retardation, microcephaly, and typical facial appearance with prominent nose and micrognathia. Type II was clearly different, both clinically and radiologically, whereas types I and III shared manifestations. Distinction between the latter two was established on the basis of subtle radiological differences. In 1967, Taybi and Linder described another syndrome with microcephalic congenital dwarfism. There is a consensus that MODP type I and III and Taybi-Linder cephaloskeletal dysplasia represent the same disorder. We report on four patients with MODP type Taybi-Linder syndromes, two of whom were born to unrelated but consanguineous parents, while the other two were sibs. Second-trimester prenatal detection by ultrasonography was possible in one case. Consanguinity in two cases and recurrence among sibs are consistent with autosomal recessive inheritance.

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“…MOPD I was first described by Taybi and Linder [1967] as cephaloskeletal dysplasia and fewer than 30 cases have been reported [Thomas and Nevin, 1976; Winter et al, 1985; Haan et al, 1989; Meinecke and Passarge, 1991; Meinecke et al, 1991; Eason et al, 1995; Berger et al, 1998; Sigaudy et al, 1998; Vichi et al, 2000; Klinge et al, 2002; Juric‐Sekhar et al, 2011]. Skeletal findings in MOPD I include platyspondyly and vertebral clefting, horizontal acetabular roofs, elongated and curved clavicles, and short long bones with enlarged metaphyses including age‐dependent bowing and undermodeled long bones.…”

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confidence: 99%

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

Abdel-Salam

Miyake

Eid

et al. 2011

American J of Med Genetics Pt A

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The designation microcephalic osteodysplastic primordial dwarfism (MOPD) refers to a group of autosomal recessive disorders, comprising microcephaly, growth retardation, and a skeletal dysplasia. The different types of MOPD have been delineated on the basis of clinical, radiological, and genetic criteria. We describe two brothers, born to healthy, consanguineous parents, with intrauterine and postnatal growth retardation, microcephaly with abnormal gyral pattern and partial agenesis of corpus callosum, and skeletal anomalies reminiscent of those described in MOPD type I. This was confirmed by the identification of the homozygous g.55G > A mutation of RNU4ATAC encoding U4atac snRNA. The sibs had yellowish-gray hair, fair skin, and deficient retinal pigmentation. Skin biopsy showed abnormal melanin function but OCA genes were normal. The older sib had an intracranial hemorrhage at 1 week after birth, the younger developed chilblains-like lesions at the age 2½ years old but analysis of the SAMHD1 and TREX1 genes did not show any mutations. To the best of our knowledge, vasculopathy and pigmentary disorders have not been reported in MOPD I.

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Renal tubular leakage complicating microcephalic osteodysplastic primordial dwarfism.

Abstract: We describe a male infant with phenotypic and radiological features

Cited by 7 publications

References 7 publications

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: Report of four cases and review of the literature

A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder

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