ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION&lt;subtitle&gt;A Clinical Entity&lt;/subtitle&gt;

Lowe, Charles U.

doi:10.1001/archpedi.1952.02040060030004

Cited by 229 publications

(175 citation statements)

References 27 publications

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“…Although this patient presented a few atypical features, the clinical and laboratory findings described herein were similar to those first described by Lowe et al (1952). This syndrome showed widespread manifestations including abnormalities of connective tissue such as growth retardation, eye changes and bone abnormalities.…”

Section: Discussionsupporting

confidence: 80%

Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome.

Hayashi

Nagata

Kimura

et al. 1978

Tohoku J. Exp. Med.

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Section: Discussionsupporting

confidence: 80%

Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome.

Hayashi

Nagata

Kimura

et al. 1978

Tohoku J. Exp. Med.

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“…In this paper, we report a family in which six out of eight females show a completely skewed X inactivation transmitted as X-linked dominant trait in four generations, that in one of these females having led to the manifestation of the full typical picture of Lowe syndrome (Lowe et al 1952) due to a novel mutation ((IVS14+2T>G) in theOCRL1 gene most likely arisen in the paternal germ-line. The extremely skewed X inactivation found in the blood cells determined the development of the Lowe syndrome phenotype in this female, while cytogenetic abnormalities and uniparental disomy have been excluded.…”

Section: Discussionmentioning

confidence: 99%

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

et al. 2006

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In mammals, X-linked gene products can be dosage compensated between males and females by inactivation of one of the two X chromosomes in the developing female embryos. X inactivation choice is usually random in embryo mammals, but several mechanisms can influence the choice determining skewed X inactivation. As a consequence, females heterozygous for X-linked recessive disease can manifest the full phenotype. Herein, we report a family with extremely skewed X inactivation that produced the full phenotype of Lowe syndrome, a recessive X-linked disease, in a female. The X chromosome inactivation studies detected an extremely skewed inactivation pattern with a ratio of 100:0 in the propositus as well as in five out of seven unaffected female relatives in four generations. The OCRL1 ''de novo'' mutation resides in the active paternally inherited X chromosome. X chromosome haplotype analysis suggests the presence of a locus for the familial skewed X inactivation in chromosome Xq25 most likely controlling X chromosome choice in X inactivation or cell proliferation. The description of this case adds Lowe syndrome to the list of X-linked disorders which may manifest the full phenotype in females because of the skewed X inactivation.

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“…Lowe oculocerebrorenal syndrome (OCRL, also called OCRL1; MIM# 309000) is a rare X-linked disorder characterized by congenital cataracts, muscular hypotonia, mental retardation, renal tubular disfunction (Lowe et al 1952). The OCRL gene is located on chromosome Xq25-26 and its genomic structure has been partly elucidated (Attree et al, 1992;Nussbaum et al, 1997).…”

Section: Introductionmentioning

confidence: 99%

OCRLMutation analysis in Italian patients with Lowe syndrome

et al. 2004

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The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare X-linked disorder characterized by major abnormalities of eyes, nervous system, and kidneys. The gene responsible for OCRL was identified by positional cloning and encodes an inositol polyphosphate-5-phosphatase. We performed the molecular analysis in 9 Italian patients and 26 relatives and we detected the mutations in all the examined patients. Eight mutations out of nine had never been described and consisted of truncating mutations (frameshift, nonsense, splice site and genomic deletion), and missense mutations. The mutations were distributed in the second half of the gene as previously described in other populations. In three cases the mutations were absent in the mothers confirming the occurrence of novel mutations in this disorder. Our results on the Italian population are similar to the data previously obtained in other populations.

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ORGANIC-ACIDURIA, DECREASED RENAL AMMONIA PRODUCTION, HYDROPHTHALMOS, AND MENTAL RETARDATION<subtitle>A Clinical Entity</subtitle>

Cited by 229 publications

References 27 publications

Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome.

Urinary excretion of acid glycosaminoglycans and hydroxyproline in a patient with oculo-cerebro-renal syndrome.

A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome

OCRLMutation analysis in Italian patients with Lowe syndrome

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