Abnormal distal phalanges and nails, deafness, mental retardation, and seizure disorder: A new familial syndrome

Qazi, Qutub H.; Nangia, Bhim S.

doi:10.1016/s0022-3476(84)81101-4

Cited by 24 publications

(25 citation statements)

References 4 publications

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“…Urine 2-oxoglutarate was elevated in all patients. The elevation of 2-oxoglutarate in the urine was not previously detected in the patient reported by Qazi and Nangia [1984]. We observed a high level of 2-oxoglutarate in the same patient, indicating that prior to solvent extraction oximation may improve the detection of 2-oxoglutarate.…”

Section: Discussionsupporting

confidence: 56%

“…Most reported cases were autosomal recessive, and a few were autosomal dominant. Our patients, from three different families, have the recessive form of DOOR syndrome [Qazi and Nangia, 1984;Patton et al, 1987]. Urine 2-oxoglutarate was elevated in all patients.…”

Section: Discussionmentioning

confidence: 70%

“…Parental consanguinity was reported by Nevin et al [1982], suggesting autosomal recessive inheritance. The case reported by Qazi and Nangia [1984] also suggests a recessive form of inheritance. A report by Patton et al [1987] showed elevation of 2-oxoglutarate in the urine and plasma of patients with DOOR syndrome.…”

Section: Introductionmentioning

confidence: 80%

“…We examined four patients, including two siblings (a brother and sister), one patient who was reported by Qazi and Nangia [1984], and one patient who had elevated urinary 2-oxoglutarate [Patton et al, 1987]. Fibroblasts and white blood cells were obtained from these four patients and used to measure E1 0 .…”

Section: Measurement Of E1mentioning

confidence: 99%

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DOOR syndrome: Deficiency of E1 component of the 2‐oxoglutarate dehydrogenase complex

et al. 2002

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Four patients from three families with the clinical features of DOOR syndrome (onycho-osteodystrophy, dystrophic thumbs, sensorineural deafness, and increased urinary levels of 2-oxoglutarate) are the subjects of this report. Our report deals with the autosomal recessive form of the disease, wherein the activity of 2-oxoglutarate decarboxylase (E1(0)) in fibroblasts and white blood cells of the patients is decreased. The activity of E1(0) in all patients' fibroblasts and white blood cells was significantly lower compared to the controls. This study demonstrates for the first time that E1(0) deficiency is an important biochemical marker for the autosomal recessive form of DOOR syndrome.

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Section: Discussionsupporting

confidence: 56%

Section: Discussionmentioning

confidence: 70%

Section: Introductionmentioning

confidence: 80%

Section: Measurement Of E1mentioning

confidence: 99%

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DOOR syndrome: Deficiency of E1 component of the 2‐oxoglutarate dehydrogenase complex

et al. 2002

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“…We present a mother and her two daughters who appear to have some of the clinical diagnostic criteria of Coffin-Siris syndrome. Previous reports in the literature have described individuals with a ''variant'' or ''mild'' Coffin-Siris syndrome [Senior, 1971;Qazi and Nangia, 1984;Braun-Quentin et al, 1996;Kirel et al, 2000]. A diagnosis of brachymorphism-onychodysplasia-dysphalangism (BOD) syndrome has been suggested for individuals who do not strictly meet diagnostic criteria for Coffin-Siris syndrome and have a milder phenotype [Verloes et al, 1993;Ounap et al, 1998].…”

Section: Discussionmentioning

confidence: 99%

Autosomal dominant syndrome resembling Coffin–Siris syndrome

Flynn

Milunsky

2006

American J of Med Genetics Pt A

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Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature.

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