Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect

Buttiens, M.; Opitz, John M.; Reynolds, James F.

doi:10.1002/ajmg.1320270319

Cited by 19 publications

(25 citation statements)

References 8 publications

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“…1A-C). The skeletal defects and facial appearance resemble those of previously published patients with DLDMS by Buttiens and Fryns [1987], Keymolen et al [2000], and Dimitrov et al [2009].…”

Section: Patients and Methods Patientsupporting

confidence: 80%

“…qPCR is a molecular technique that allows the determination of dosage for specific sequences of interest [Buttiens and Fryns, 1987;Keymolen et al, 2000;Dimitrov et al, 2010]. For this test, primer pairs specific to target sequence within the previously reported aberration are designed and validated for specificity and accuracy.…”

Section: Methodsmentioning

confidence: 99%

“…Microarray-based comparative genomic hybridization (aCGH) was performed on DNA extracted from the peripheral blood of all five relatives using a BAC microarray (the SignatureChip Whole GenomeÔ; Signature Genomics, Spokane, WA) as previously described [Buttiens and Fryns, 1987;Ballif et al, 2008;Dimitrov et al, 2009;Keymolen et al, 2000]. Results were visualized using Signature Genomic Laboratories' laboratory-developed computer software program (Genoglyphix; Signature Genomic Laboratories).…”

Section: Methodsmentioning

confidence: 99%

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Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

Filho

Souza

Faucz

et al. 2011

American J of Med Genetics Pt A

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Split hand/foot malformation (SHFM) is characterized by underdeveloped or absent central digital rays, clefts of hands and feet, and variable syndactyly of the remaining digits. SHFM is a heterogeneous condition caused by abnormalities at one of multiple loci, including SHFM1 (SHFM1 at 7q21-q22), SHFM2 (Xq26), SHFM3 (FBXW4/DACTYLIN at 10q24), SHFM4 (TP63 at 3q27), and SHFM5 (DLX1 and DLX 2 at 2q31). SHFM3 is unique in that it is caused by submicroscopic tandem chromosome duplications of FBXW4/DACTYLIN. In order to show that array-based comparative genomic hybridization should be considered an essential aspect of the genetic analysis of patients with SHFM, we report on a family with two brothers who have ectrodactyly. Interestingly, both also have ocular abnormalities. Their sister and both parents are healthy. DNA of all five family members was analyzed using oligonucleotide-based DNA microarray and quantitative PCR. The two affected brothers were found to have a small duplication of approximately 539 kb at 10q24.32. The patients' sister and father do not have the microduplication, but qPCR showed that mother's DNA carries the duplication in 20% of blood lymphocytes. In this family, two children were affected with ectrodactyly having a duplication over the SHFM3 locus. The mother, who shows no clinical features of ectrodacytyly, is a mosaic for the same duplication. Therefore, we demonstrate that somatic/gonadal mosaicism is a mechanism that gives rise to SHFM. We also suggest that ocular abnormalities may be part of the clinical description of SHFM3.

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Section: Patients and Methods Patientsupporting

confidence: 80%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

Filho

Souza

Faucz

et al. 2011

American J of Med Genetics Pt A

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“…The most frequent occurring defects involved in this ''syndrome'', as evidenced by case reports, are LDs (in most cases atypical split hand/split foot), a variety of renal and urogenital defects, and an array of minor congenital anomalies [Curran and Curran, 1972;Salmon and Wakefield, 1977;Halal et al, 1980;Miltenyi et al, 1984;Saito et al, 1989;Zeier et al, 1989;Houlston and MacDermot, 1992;Miltenyi et al, 1992;Akl, 1994;Kovacs et al, 1997]. Other patients had not only a variety of renal and limb defects, but also other major congenital anomalies [Gehler and Grosse, 1972;Siegler et al, 1980;Freire-Maia et al, 1982;Pinheiro et al, 1983;Al Salloum et al, 1996;Buttiens and Fryns, 1987;Lurie et al, 1991;Pierquin et al, 1991]. Despite these documented cases, a well-circumscribed definition of the ''acrorenal syndrome'' has never been developed.…”

Section: Introductionmentioning

confidence: 97%

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Kroes

Olney

Rosano³

et al. 2004

American J of Med Genetics Pt A

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Dieker and Opitz in 1969 described the simultaneous occurrence of limb deficiencies (LDs) and renal anomalies (RAs) in three patients. Curran and Curran introduced in 1972 the term "acrorenal syndrome." Since then, the term "acrorenal syndrome" is used occasionally, but a well-circumscribed definition has never been established. On the other hand, the concept of an acrorenal polytopic developmental field defect was postulated by Opitz and others to explain the association between RAs and LDs. We undertook this study to investigate whether this acrorenal "syndrome" could be identified in a large group of cases with congenital RAs and a limb deficiency. Eleven birth defect registries that are part of the International Clearinghouse for Birth Defects Monitoring (i.e., registries of ICBDMS in Finland, France [Paris and Strasbourg], Israel, Italy [IPIMC and Emilia Romagna], Mexico, Northern Netherlands, South America, Spain, and the United States [Atlanta]) provided data on 815 infants who had a LD and at least one other major congenital anomaly. These 815 cases were ascertained among 5,163,958 births. We selected the 197 cases who had both a limb deficiency and a renal or urinary tract anomaly. In about 50% of these cases a diagnosis or a recognized phenotype was reported, with chromosomal aberrations and VACTERL being most frequent. In the group with no diagnosis or recognized phenotype (95 cases), we looked for (a) clustering of specific types of LDs and RAs, and (b) for clustering of associated anomalies, in order to find evidence for and be able to define better the term "acrorenal syndrome." Our data suggest that an association exists between LDs and RAs, possibly explained by the concept of the acrorenal polytopic developmental field defect. However, our dataset does not yield evidence for the existence of one distinct "syndrome," defined as a pattern of causally related multiple anomalies. Therefore, use of the term "acrorenal syndrome" should be avoided.

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“…The renal anomalies vary from mild anatomical malformations to severe renal hypoplasia and renal failure [1]. The underlying renal pathology associated with renal failure has mainly been described as oligomeganephronia [4,5,7]. Presentation with end-stage renal failure is rarely reported [3 -5].…”

Section: Introductionmentioning

confidence: 99%

Acrorenal syndrome associated with visual defect

Salloum

Rasheed

Husain

et al. 1996

Pediatric Nephrology

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Apparently new autosomal recessive syndrome of mental retardation, distal limb deficiencies, oral involvement, and possible renal defect

Cited by 19 publications

References 8 publications

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

Somatic/gonadal mosaicism in a syndromic form of ectrodactyly, including eye abnormalities, documented through array‐based comparative genomic hybridization

Renal defects and limb deficiencies in 197 infants: Is it possible to define the “acrorenal syndrome”?

Acrorenal syndrome associated with visual defect

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