Molecular analysis of isolates of Streptoccocus suis capsular type 2 by restriction-endonuclease-digested DNA separated on SDS-PAGE and by hybridization with an rDNA probe

Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreo-retino-choroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). A rare subtype of Bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1,000,000 individuals. Here we report 6 families and searched for a genotype-phenotype correlation. All patients were referred due to reduced best-corrected visual acuity (BCVA), ranging from 0.1/10 to 3/10. They all showed vitelliform lesions located at the macula, sometimes extending into the midperiphery, along the vessels and the optic disc. Onset of the disease varied from the age of 3 to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients. Molecular analysis revealed previously reported mutations p.(E35K);(E35K), p.(L31M);(L31M), p.(R141H);(A195V), p.(R202W);(R202W), and p.(Q220*);(Q220*) in five families. One family showed a novel mutation: p.(E167G);(E167G). All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. Genotype-phenotype correlations are difficult to establish and will require the analysis of additional cases.

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Analysis of intrastrain recombination in herpes simplex virus type 1 strain 17 and herpes simplex virus type 2 strain HG52 using restriction endonuclease sites as unselected markers and temperature-sensitive lesions as selected markers

Journal of General Virology ◽

10.1099/0022-1317-73-2-293 ◽

1992 ◽

Vol 73 (2) ◽

pp. 293-301 ◽

Cited By ~ 19

Author(s):

S. M. Brown ◽

J. H. Subak-Sharpe ◽

J. Harland ◽

A. R. MacLean

Keyword(s):

Herpes Simplex Virus ◽

Herpes Simplex ◽

Restriction Endonuclease ◽

Virus Type ◽

Herpes Simplex Virus Type ◽

Temperature Sensitive ◽

Simplex Virus

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Molecular analysis of the 5α-steroid reductase type 2 gene in a family with deficiency of the enzyme

American Journal of Medical Genetics ◽

10.1002/(sici)1096-8628(19970303)69:1<69::aid-ajmg13>3.0.co;2-m ◽

1997 ◽

Vol 69 (1) ◽

pp. 69-72 ◽

Cited By ~ 14

Author(s):

F. Vilchis ◽

P. Canto ◽

B. Chávez ◽

A. Ulloa-Aguirre ◽

J. P. Méndez

Keyword(s):

Molecular Analysis

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Clinical and molecular analysis of a pedigree of southern Italian ancestry with spinocerebellar ataxia type 2

Neurology ◽

10.1212/wnl.49.4.1163 ◽

1997 ◽

Vol 49 (4) ◽

pp. 1163-1166 ◽

Cited By ~ 11

Author(s):

C. Adams ◽

S. Starkman ◽

S. M. Pulst

Keyword(s):

Spinocerebellar Ataxia ◽

Molecular Analysis ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxia Type 2

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Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency

International Journal of Endocrinology ◽

10.1155/2012/964876 ◽

2012 ◽

Vol 2012 ◽

pp. 1-7 ◽

Cited By ~ 11

Author(s):

Nélio Neves Veiga-Junior ◽

Pedro Augusto Rodrigues Medaets ◽

Reginaldo José Petroli ◽

Flávia Leme Calais ◽

Maricilda Palandi de Mello ◽

...

Keyword(s):

Birth Weight ◽

Molecular Analysis ◽

Ambiguous Genitalia ◽

Androgen Insensitivity Syndrome ◽

Penile Length ◽

Androgen Insensitivity ◽

Molecular Defects ◽

Partial Androgen Insensitivity Syndrome

The aim of this study was to search for clinical and laboratorial data in 46,XY patients with ambiguous genitalia (AG) and normal testosterone (T) synthesis that could help to distinguish partial androgen insensitivity syndrome (PAIS) from 5α-reductase type 2 deficiency (5α-RD2) and from cases without molecular defects in theARandSRD5A2genes. Fifty-eight patients (51 families) were included. Age at first evaluation, weight and height at birth, consanguinity, familial recurrence, severity of AG, penile length, LH, FSH, T, dihydrotestosterone (DHT), Δ4-androstenedione (Δ4), and T/DHT and T/Δ4 ratios were evaluated. TheARandSRD5A2genes were sequenced in all cases. There were 9 cases (7 families) of 5α-RD2, 10 cases (5 families) of PAIS, and 39 patients had normal molecular analysis ofSRD5A2andARgenes. Age at first evaluation, birth weight and height, and T/DHT ratio were lower in the undetermined group, while penile length was higher in this group. Consanguinity was more frequent and severity of AG was higher in 5α-RD2 patients. Familial recurrence was more frequent in PAIS patients. Birth weight and height, consanguinity, familial recurrence, severity of AG, penile length, and T/DHT ratio may help the investigation of 46,XY patients with AG and normal T synthesis.

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