Steroid 11-Beta-Hydroxylase Deficiency Caused by Compound Heterozygosity for a Novel Mutation, p.G314R, in One CYP11B1 Allele, and a Chimeric CYP11B2/CYP11B1 in the Other Allele

2005 ◽  
Vol 63 (6) ◽  
pp. 284-293 ◽  
Author(s):  
Isao Kuribayashi ◽  
Satoshi Nomoto ◽  
Guy Massa ◽  
Wilma Oostdijk ◽  
Jan M. Wit ◽  
...  
Keyword(s):  
Novel Mutation ◽  
The Other ◽  
Compound Heterozygosity ◽  
Hydroxylase Deficiency

scholarly journals Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in Brazil

2010 ◽  
Vol 54 (8) ◽  
pp. 711-716 ◽  
Author(s):  
Daiane Rodrigues Barbosa Belgini ◽  
Maricilda Palandi de Mello ◽  
Maria Tereza Matias Baptista ◽  
Daniel Minutti de Oliveira ◽  
Fernanda Canova Denardi ◽  
...  
Keyword(s):  
Present Report ◽  
Molecular Data ◽  
The Other ◽  
Renin Activity ◽  
Inguinal Region ◽  
Molecular Profile ◽  
Hydroxylase Deficiency ◽  
Lyase Deficiency ◽  
Frequent Mutations ◽  
Low Levels

In 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients.

scholarly journals One-year clinical evaluation of single morning dose prednisolone therapy for 21-hydroxylase deficiency

2004 ◽  
Vol 48 (5) ◽  
pp. 705-712 ◽  
Author(s):  
Milena C. F. Caldato ◽  
Vânia T. Fernandes ◽  
Claudio E. Kater
Keyword(s):  
Oral Dose ◽  
Hormonal Control ◽  
The Other ◽  
Morning Dose ◽  
Hydroxylase Deficiency ◽  
Bone Maturation ◽  
Clinical Control ◽  
One Year ◽  
21 Hydroxylase Deficiency ◽  
Synthetic Glucocorticoids

Replacement schedules with hydrocortisone (HC) to treat 21OHD are generally unsatisfactory and partially successful regarding growth. Noncompliance is common since its short half-life requires TID administration. Even multiple daily HC doses do not reproduce cortisol chronobiology and may disturb hypothalamic-mediated rhythms. Because synthetic glucocorticoids could improve clinical control, we evaluated the possible benefits of a one-year treatment period with a single morning oral dose of prednisolone (PD) phosphate in 44 patients with 21OHD randomized to two sex and age-matched groups: one (n=23) receiving PD (2.4-3.5mg/m² BSA) and the other (n=21) TID HC (10-15mg/m² BSA). After one year, bone maturation ratio was kept stable in the PD group (from 1.20 to 1.14), whereas a slight increase was seen in the HC group (from 1.21 to 1.29). Growth velocity (SDS) was preserved in the PD group (from 1.2 to 1.2 in all; 0.79 to1.13 in pre-pubertals), whereas a slight increase occurred in the pre-pubertal HC-treated patients (from 1.1 to 1.9); height SDS for BA increased significantly in the PD group. Thus, patients with 21OHD treated for one year with a single morning dose of PD appear to achieve a better clinical and hormonal control than those on TID HC, permitting a reduction of the replacement dose. The current PD schedule used by our group (1.5-3mg/m² BSA/day) suggests a higher HC:PD bioequivalence ratio of 6-8:1.

scholarly journals Heterogeneity of Nuclear Lamin A Mutations in Dunnigan-Type Familial Partial Lipodystrophy*

2000 ◽  
Vol 85 (9) ◽  
pp. 3431-3435
Author(s):  
Robert A. Hegele ◽  
Henian Cao ◽  
Carol M. Anderson ◽  
Irene M. Hramiak
Keyword(s):  
Environmental Factors ◽  
Novel Mutation ◽  
Compound Heterozygote ◽  
Lamin A ◽  
Missense Mutations ◽  
Compound Heterozygosity ◽  
Partial Lipodystrophy ◽  
Nuclear Lamin ◽  
Familial Partial Lipodystrophy ◽  
Affected Subject

Abstract We previously identified a novel mutation, namely LMNA R482Q, that was found to underlie Dunnigan-type partial lipodystrophy (FPLD) and diabetes in an extended Canadian kindred. We have since sequenced LMNA in five additional Canadian FPLD probands and herein report three new rare missense mutations in LMNA: V440M, R482W, and R584H. One severely affected subject was a compound heterozygote for both V440M and R482Q. The findings indicated that 1) a spectrum of LMNA mutations underlies FPLD; 2) aberrant lamin A, and not lamin C, is likely to underlie FPLD, as R584H occurs within LMNA sequence that is specific for lamin A; 3) the V440M mutation may not cause lipodystrophy on its own; 4) compound heterozygosity for V440M and R482Q is associated with a relatively more severe FPLD phenotype, but not with complete lipodystrophy; and 5) variation in the severity of the phenotype might be related to environmental factors.

A Novel Mutation in NIPBL Gene with the Cornelia de Lange Syndrome and a 10q11.22-q11.23 Microdeletion in the Same Individual

2020 ◽  
Author(s):  
Haydar Bağış ◽  
Özden Öztürk ◽  
Semih Bolu ◽  
Bayram Taşkın
Keyword(s):  
Novel Mutation ◽  
Genetic Disorder ◽  
Gene Mutations ◽  
The Other ◽  
Cornelia De Lange Syndrome ◽  
Other Hand ◽  
Wide Range ◽  
Cornelia De Lange

AbstractThe Cornelia de Lange syndrome (CdLS) is a genetic disorder characterized by multisystemic malformations. CdLS is due to mutations in one of the following genes: NIPBL, SMC1A, SMC3, RAD21, and HDAC8. On the other hand, 10q11.2 deletions cause a wide range of presentations in patients. Approximately 40 cases with variable deletions of 10q11.2 have been reported in literature. Some of the reported cases involve the coexistence of duplication or deletion affecting one copy of the chromosome. However, deletion of chromosome 10q11.22-q11.23 and CdLS syndrome caused by NIPBL gene mutations have not been reported previously. This report, therefore, is the first to report their coexistence together.

A Novel Mutation in Aicardi–Goutières' Syndrome: A Case Report

2020 ◽  
Author(s):  
Motahareh Sheikh-Hosseini ◽  
Mohammad Moarefzadeh ◽  
Hamideh Alavi-Moghaddam ◽  
Saeid Morovvati
Keyword(s):  
Neonatal Jaundice ◽  
Clinical Phenotype ◽  
Novel Mutation ◽  
Genetic Disorder ◽  
Cerebral Atrophy ◽  
Pathogenic Mutation ◽  
Consanguineous Marriage ◽  
The Other ◽  
Congenital Infections ◽  
History Of

AbstractAicardi–Goutières' syndrome (AGS) is a rare heterogeneous genetic disorder characterized by encephalopathy and may bear resemblance to congenital infections. The prevalence of AGS is estimated at more than 4,000 worldwide. Mutations in TREX1 gene are present in ∼22% of patients. We present the case of a 2-year-old boy who came to the Biogene laboratory (Tehran, Iran) with a constellation of congenital disorders but no clear diagnosis. His clinical phenotype consisted of neonatal jaundice, relative microcephaly with diffuse cerebral atrophy in both hemispheres, developmental delay, hypotonia, and nystagmus. There was history of parental consanguineous marriage and prematurity. In our study, a homozygous potentially pathogenic mutation in TREX1 gene associated with AGS1 was detected. This mutation has not been reported in the other patients with AGS. A novel frameshift homozygous potentially pathogenic mutation in TREX1 is postulated to be the cause of disease in our patient.

Structural and functional analysis of a novel mutation of CYP21B in a heterozygote carrier of 21-hydroxylase deficiency

2005 ◽  
Vol 117 (6) ◽  
pp. 558-564 ◽  
Author(s):  
Jörg Bojunga ◽  
Christoph Welsch ◽  
Iris Antes ◽  
Mario Albrecht ◽  
Thomas Lengauer ◽  
...  
Keyword(s):  
Functional Analysis ◽  
Novel Mutation ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency

A review of biochemical and molecular genetic aspects of tyrosine hydroxylase deficiency including a novel mutation (291delC)

1999 ◽  
Vol 22 (4) ◽  
pp. 364-373 ◽  
Author(s):  
R. A. Wevers ◽  
J. F. de Rijk-van Andel ◽  
C. Bräutigam ◽  
B. Geurtz ◽  
L. P. W. J. van den Heuvel ◽  
...  
Keyword(s):  
Tyrosine Hydroxylase ◽  
Novel Mutation ◽  
Molecular Genetic ◽  
Hydroxylase Deficiency ◽  
Tyrosine Hydroxylase Deficiency
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