Mental retardation, cataracts, and unexplained hyperphosphatasia.

Gomes, W J; Hunter, James

doi:10.1136/adc.45.243.726

Cited by 19 publications

(12 citation statements)

References 1 publication

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“…with or without short stature, in association with cataracts, but we have been unable to find any with features identical to those seen in our patients. It seems unlikely that the The association of mental retardation, primary hypogonadism, and cataracts appears There are several mental retardation syndromes which have an abnormal physiognomy, Duckett, andFranklin, 1963 Duke-Elder, 1972 Retinal pigment degeneration Gomez and Hunter, 1970Hallgren, 1959Kjellin, 1959Matsoukas et al, 1973Mirhosseini et al, 1972Mollica, Pavone, and Antener, 1972Singh et al, 1970 Features differing from those in our patients Marfanoid appearance, ataxia, selective aminoaciduria cataracts in our patients were congenital. The mother believed they were present in early childhood, but they were not noted in the hospital records of the boys until they were in their early teens.…”

Section: Discussioncontrasting

confidence: 48%

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

1978

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Section: Discussioncontrasting

confidence: 48%

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

1978

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“…They were both found to have elevated levels of alkaline phosphatase (>1000 U/Liter, normal < 600) unattributable to other causes. Subsequent reports of similar individuals [Thompson et al, 2010; Kruse et al, 1988; Gomes and Hunter, 1970] have identified this entity as Mabry syndrome (OMIM 239300). Mutations in the PIGV have recently been implicated as causative [Krawitz et al, 2010].…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier

Bodurtha

Burton

et al. 2012

American J of Med Genetics Pt A

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Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the “classic” coarse facial features previously described; another displays “variant” facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to fifteen additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis.

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“…Originally described as the triad of developmental delay, seizures, and persistent hyperphosphatasia, the syndrome was not well delineated until recently [Thompson et al, 2010]. Five published studies of seven families with 21 affected individuals have appeared [Gomes and Hunter, 1970; Mabry et al, 1970; Kruse et al, 1988; Rabe et al, 1991; Cole and Whyte, 1997] prior to the recruitment of cases for the present study [Thompson et al, 2006]. Over 20 cases that broadly fit the original description of the syndrome have been recruited for molecular studies [Horn et al, 2010; Thompson et al, 2010].…”

Section: Introductionmentioning

confidence: 99%

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

Thompson

Roscioli

Marcelis

et al. 2012

American J of Med Genetics Pt A

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Hyperphosphatasia with neurologic deficit (Mabry syndrome) was first described in a single family (OMIM#239300) by Mabry et al. [1970]. Although considered rare at the time, more than 20 individuals with the triad of developmental disability, seizures, and hyperphosphatasia have been identified world‐wide. The 1‐6 mannosyltransferase 2, phosphatidylinositol glycan V (PIGV) gene has been found to be disrupted in some patients with the additional feature of brachytelephalangy. In the present report we identify three patients compound homozygous for PIGV mutations. Two siblings were found to be compound heterozygotes for c.467G > A and c.494C > A in exon 3 of PIGV (the c.494C > A PIGV variant is novel). A third patient with similar phenotype, was a compound heterozygote for the known c.1022C > A/c.1022C > T (p.Ala341Glu/p.Ala341Val) mutation. This patient was also noted to have lysosomal storage in cultured fibroblasts. In contrast, the fourth patient who had no apparent hand abnormality, was found to be heterozygous for a previously unclassified c.1369C > T mutation in exon 4 of the PIGV gene, resulting in a p.Leu457Phe substitution in the catalytic domain of the enzyme. Unless this variant has a dominant negative effect, however, it seems likely that another GPI biosynthesis gene variant may contribute to the disorder, possibly through digenic inheritance. Since slightly fewer than half of the nine cases presented in this report and our previous report [Thompson et al., 2010] have PIGV mutations, we suggest that other genes critical to GPI anchor biosynthesis are likely to be disrupted in some patients. © 2012 Wiley Periodicals, Inc.

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Mental retardation, cataracts, and unexplained hyperphosphatasia.

Cited by 19 publications

References 1 publication

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

Severe mental retardation, cataracts, short stature, and primary hypogonadism in two brothers

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Phenotypic variability in hyperphosphatasia with seizures and neurologic deficit (Mabry syndrome)

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