Syndrome Associated With Group-D Chromosome Deletions

Lehrke, Robert; Thelen, Thomas

doi:10.1016/s0140-6736(71)92075-7

Cited by 4 publications

(2 citation statements)

References 10 publications

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“…This is despite published cases of distal 13q deletion patients who, while they are not described as such, fulfill the criteria for the VACTERL association. Our literature review included 142 patients with presumed distal 13q deletions, although 47 individuals did not have banded karyotypes [Adams, 1965; Allderdice et al, 1969; Bain and Gauld, 1963; Bamforth and Lin, 1997; Bartsch et al, 1996; Battin et al, 1988; Baud et al, 1999; Benn et al, 1983; Biles et al, 1970; Boduroglu et al, 1998; Bottani et al, 1991; Brondum‐Nielsen et al, 1981; Brown et al, 1993; Brown et al, 1995; Carmichael et al, 1977; Carnevale et al, 1984; Coco and Penchaszadeh, 1982; Coffin and Wilson, 1970; Cossu et al, 1979; Couturier et al, 1985; Cuschieri et al, 1977; Dean et al, 1991; Emanuel et al, 1979; Faed et al, 1969; Fried et al, 1975; Fryns et al, 1974, 1980; Gerald et al, 1967; Gershoni‐Baruch and Zekaria, 1996; Goldsmith et al, 1993; Grace et al, 1971; Grindel et al, 1999; Grösse and Schwanitz, 1973; Guala et al, 1997; Hollowell et al, 1971; Hoo et al, 1974; Ikeuchi et al, 1974; Juberg et al, 1969; Juberg and Mowrey, 1984; Kiss and Osztovics, 1989; Kistenmacher and Punnett, 1970; Kondo et al, 1985; Kučerová et al, 1975; Lam et al, 1998; Lamont et al, 1989; Laurent et al, 1967; Lehrke et al, 1971; LeJeune et al, 1968; Luquet et al, 1999; MacIntyre et al, 1964; Magenis et al, 1976; Martin et al, 1982; McCandless and Walker, 1976; Mikkelsen and Niebuhr, 1969; Nichols et al, 1979; Niebuhr and Ottosen, 1973; Nielsen et al, 1977; Nishikawa et al, 1985; Noel et al, 1976; Opitz et al, 1969; Orbeli et al, 1971; Pai et al, 1979; Reisman et al, 1965…”

Section: Discussionmentioning

confidence: 99%

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

2001

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We present a case of a child with del(13) (q31.1qter), VACTERL association, and penoscrotal transposition. Deletion of the distal long arm of chromosome 13 is associated with variable phenotypes. These phenotypes are divided into three clusters; each cluster represents a specific deleted segment of 13q. Individuals with deletions of a critical region at 13q32 have multiple congenital malformations that include components of the VACTERL association. Our patient had all six manifestations of VACTERL association. In addition, he had complete penoscrotal transposition, a unique malformation reported rarely in VACTERL association and only twice previously in deletion of distal 13q. We reviewed all reported cases of distal 13q deletions to date. Of these 137 patients, 15 could be classified into the VACTERL association. Ours was the only patient with distal 13q deletion and all VACTERL association features and also the only one with tracheoesophageal fistula. Neither holoprosencephaly nor the other central nervous system malformations that have been seen in individuals with distal 13q deletions were apparent in him. The patient presented here appears to be unique among individuals with distal 13q deletion. His cluster of malformations strengthens the argument that distal 13q deletion is a cause for VACTERL association, and that this causal relationship implies a syndromic form of VACTERL. In addition, this case and those ascertained from the literature suggest that penoscrotal transposition should be considered part of both the distal 13q-deletion syndrome and some forms of VACTERL association.

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Section: Discussionmentioning

confidence: 99%

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

2001

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“…Full PPARγ agonists like the TZDs stabilize an active AF-2 surface conformation through a hydrogen bond network with residues near helix 12 including S289, H323, H449, and Y473 20 . Because Pio is known to have deleterious side effects such as weight gain and musculoskeletal complications, there is demand for a more sophisticated understanding of its effects on PPARγ structure and function 21 . One area that requires further investigation is the effects of in vivo Pio metabolites.…”

Section: Introductionmentioning

confidence: 99%

Structural Basis of Altered Potency and Efficacy Displayed by a Major in Vivo Metabolite of the Antidiabetic PPARγ Drug Pioglitazone

et al. 2019

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Pioglitazone (Pio) is an FDA-approved drug for type 2 diabetes that binds and activates the nuclear receptor PPARγ. yet it remains unclear how in vivo Pio metabolites affect PPARγ structure and function. Here, we present a structure-function comparison of Pio and its most abundant in vivo metabolite, 1-hydroxypioglitazone (PioOH). PioOH displayed a lower binding affinity and reduced potency in coregulator recruitment assays. X-ray crystallography and molecular docking analysis of PioOH-bound PPARγ ligand-binding domain (LBD) revealed an altered hydrogen bonding network, including formation of water-mediated bonds that could underlie its altered biochemical phenotype. NMR spectroscopy and hydrogen/deuterium exchange mass spectrometry (HDX-MS) analysis coupled to activity assays revealed that PioOH better stabilizes the PPARγ activation function-2 (AF-2) coactivator binding surface and better enhances coactivator binding, affording slightly better transcriptional efficacy. These results indicating Pio hydroxylation affects its potency and efficacy as a PPARγ agonist contribute to our understanding of PPARγ-drug metabolite interactions.

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The child with ambiguous genitalia

Hendren¹,

Crawford²

1972

Current Problems in Surgery

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Syndrome Associated With Group-D Chromosome Deletions

Cited by 4 publications

References 10 publications

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

Distal 13q Deletion Syndrome and the VACTERL Association: Case report, literature review, and possible implications

Structural Basis of Altered Potency and Efficacy Displayed by a Major in Vivo Metabolite of the Antidiabetic PPARγ Drug Pioglitazone

The child with ambiguous genitalia

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