Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and Ichthyosis

Ra, Goyer; Reynolds, Jennifer E.; Burke, J. P.; Burkholder, Peter M.

doi:10.1097/00000441-196809000-00005

Cited by 46 publications

(10 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Total RNA was isolated from rat tissues using TRIzol reagent (Invitrogen) according to the manufacturer's protocol. For reverse transcription, 0.5 g of oligo(dT) [12][13][14][15][16][17][18] and 1 l of dNTPs (10 mM) were added to 1 g of total RNA in a total volume of 10 l. The mixture was incubated for 10 min at 65°C and then chilled on ice. Dithiothreitol (2 l, 0.1 M), 10ϫ reverse transcriptase buffer (2 l), MgCl 2 (4 l, 25 mM), and 40 units of RNaseOUT (Invitrogen) were added, and the mixture was incubated at 42°C for 2 min.…”

Section: Methodsmentioning

confidence: 99%

“…In some cases of iminoglycinuria of mental retardation, neurosensory hearing loss and ichthyosis have been reported (11,12). Family studies revealed that heterozygous infants of certain probands exhibit only glycinuria, but not iminoglycinuria, and prolinuria and glycinuria are reported to result from FIG.…”

Section: Onset Of Sit1 Expression In the Neonate Can Account For The mentioning

confidence: 99%

“…Defective System IMINO activity is believed to result in iminoglycinuria, but genetic defects have not yet been identified. Iminoglycinuria is a rare autosomal recessive disorder characterized by increased urinary excretion of proline, hydroxyproline, and glycine (McKusick catalogue number 242600/OMIM % 242600; Online Mendelian Inheritance in Man, data base in National Center for Biotechnology Information (NCBI), www.ncbi.nlm.nih.gov/omim/), resulting in mental retardation, neurosensory hearing loss, and ichthyosis (11,12). However, many patients have only benign symptoms, despite hyperiminoaciduria, because these amino acids can be reabsorbed by various renal tubule amino acid transporters with overlapping specificities and by the oligopeptide transporters.…”

mentioning

confidence: 99%

See 2 more Smart Citations

Identification of Mammalian Proline Transporter SIT1 (SLC6A20) with Characteristics of Classical System Imino

Takanaga¹,

Mackenzie²,

Suzuki

et al. 2005

Journal of Biological Chemistry

139

129

View full text Add to dashboard Cite

Amino acid homeostasis depends on specific amino acid transport systems, many of which have been characterized at the molecular level. However, the classical System IMINO, defined as the Na ؉ -dependent proline transport activity that escapes inhibition by alanine, had not been identified at the molecular level. We report here the functional characteristics and tissue distribution of Sodium/Imino-acid Transporter 1 (SIT1), which exhibits the properties of classical System IMINO. SIT1, the product of the slc6a20 gene, is a member of the SLC6 Na ؉ -and Cl ؊ -dependent neurotransmitter transporter family whose function has remained unknown. When expressed in Xenopus oocytes, rat SIT1 mediated the uptake of imino acids such as proline (K 0.5 ϳ 0.2 mM) and pipecolate, as well as N-methylated amino acids (e.g. MeAIB, sarcosine). SIT1-mediated proline transport was pH-independent and insensitive to inhibition by alanine or lysine. Proline transport was Na ؉ -dependent, Cl ؊ -stimulated, and voltage-dependent. Li ؉ , but not H ؉ , could substitute for Na ؉ . Human SIT1 also functioned as a Na ؉ -dependent proline transporter. Rat SIT1 mRNA was expressed in epithelial cells of duodenum, jejunum, ileum, stomach, cecum, colon, and kidney proximal tubule S 3 segments. SIT1 mRNA was also expressed in the choroid plexus, microglia, and meninges of the brain and in the ovary. Previous reports have documented the marked urinary hyperexcretion of proline in newborn rodents and man. We found that SIT1 was dramatically up-regulated in the kidneys of 3-day-old mice, accounting for the maturation of proline reabsorption in the mouse. The human slc6a20 gene coding SIT1 is an appropriate target for investigation of hereditary forms of iminoaciduria in man.

show abstract

Section: Methodsmentioning

confidence: 99%

Section: Onset Of Sit1 Expression In the Neonate Can Account For The mentioning

confidence: 99%

mentioning

confidence: 99%

See 1 more Smart Citation

Identification of Mammalian Proline Transporter SIT1 (SLC6A20) with Characteristics of Classical System Imino

Takanaga¹,

Mackenzie²,

Suzuki

et al. 2005

Journal of Biological Chemistry

139

129

View full text Add to dashboard Cite

show abstract

“…The manifestations of the disorder are highly variable. Some affected persons have renal disease; others have associated sensorineural deafness, eye abnormalities or macrothrombocytopenia [Arnott et al, 1966;Goyer et al, 1968;Epstein et al, 19721. The association of AS with macrothrombocytopenia is rare.…”

Section: Introductionmentioning

confidence: 99%

Fechtner syndrome: Clinical and genetic aspects

et al. 1988

View full text Add to dashboard Cite

Fechtner syndrome, a variant of Alport syndrome, was first reported by Peterson et al. [1985]. It is characterized by nephritis, hearing loss, eye abnormalities, macrothrombocytopenia, and leucocyte inclusions, present in varying combinations in several members of the same family. This is the second family reported; 16 relatives are affected. The clinical manifestations of the syndrome are delineated. The pattern of inheritance is autosomal dominant. The hematologic abnormalities are similar to those detected in May Hegglin anomaly. They are present in every affected relative and may be present at birth. The feasibility of prenatal diagnosis is discussed.

show abstract

“…Congenital ichthyosis may be associated with a variety of other disorders, including renal disease (13)(14)(15). In most instances, it takes the form of nonbullous congenital ichthyosiform erythroderma, which is subject to autosomal recessive inheritance and is assumed to be caused by mutations in the TGM1 gene, located on chromosome 14 (16).…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis

Song

Chen

et al. 2013

Molecular Medicine Reports

View full text Add to dashboard Cite

Abstract. In this study, we report the case of a 12-year-old male with X-linked ichthyosis (XLI) in association with glomerular sclerosis, and our investigation into the deletion pattern of the STS gene and the flanking regions in DNA samples of family members. We observed no features typical of renal osteodystrophy or rickets, with the exception of short stature, in the three afffected male family members. Audiometry, visual acuity and olfactory sensation were normal. By performing PCR analysis of the steroid sulfatase (STS) gene and flanking regions on our patients, we discovered a complete deletion that involved the entire region from DXS1139 to DXF22S1. Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI. IntroductionX-linked ichthyosis (XLI; OMIM #308100) is an inherited metabolic disorder resulting from a steroid sulfatase (STS) deficiency (1). It affects ~1:2,000-6,000 males, with little racial or geographic variation (2-4). Of the males affected, >90% manifest with generalized exfoliation of the skin within a few weeks of being born. Later, they develop large, polygonal, dark-brown scales symmetrically distributed over the extremities, trunk and neck, but typically sparing the face, palms and soles. The skin lesions persist throughout the life of the patient. Extracutaneous manifestations are common, particularly with corneal opacities and cryptorchidism (4). Other associated features, although extremely rare, include mental retardation, epilepsy, pyloric hypertrophy, congenital defects of the abdominal wall and acute lymphoblastic leukemia (3,5).For the majority of affected males (90%), XLI is caused by a STS deficiency due to the complete deletion of the STS gene located on the short arm of the X chromosome (Xp22.3). The remaining 10% of males demonstrate a point mutation or partial deletion (4,6,7). Larger deletions involving neighboring genes (contiguous gene deletion syndromes) may result in XLI associated with Kallman syndrome (KS) or X-linked recessive chondrodysplasia punctata (CDXP) (4,6,7).In this study, we report on the case of a 12-year-old male with XLI in association with glomerular sclerosis. Ichthyosis also affects two other members of the patient's family. The case report describes our investigation into the deletion pattern of the STS gene and flanking regions in DNA samples of the family members. The study was approved by the Ethics Committee of The Second Xiangya Hospital of Central South University, Changsha, Hunan, China and consent was obtained from the the patient's family Case reportPatient history. A 12-year-old male presented with increasing nocturnal urine volume for five years, pallor for one year and discontinuous tetany for the previous two days. At seven years old, the increase in urine volume, ~800 ml/night, in addition to enuresis were noted, but aggravated gradually. There was no history of oliguria or edema. The patient was the product of a non-consanguineous marriage and...

show abstract

Hereditary Renal Disease with Neurosensory Hearing Loss, Prolinuria and Ichthyosis

Cited by 46 publications

References 0 publications

Identification of Mammalian Proline Transporter SIT1 (SLC6A20) with Characteristics of Classical System Imino

Identification of Mammalian Proline Transporter SIT1 (SLC6A20) with Characteristics of Classical System Imino

Fechtner syndrome: Clinical and genetic aspects

Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis

Contact Info

Product

Resources

About