scholarly journals Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

Genes ◽  
2019 ◽  
Vol 10 (7) ◽  
pp. 529
Author(s):  
Yassin ◽  
D’Arco ◽  
Morín ◽  
Pagarkar ◽  
Harrop-Griffiths ◽  
...  
Keyword(s):  
Inner Ear ◽  
Autosomal Recessive ◽  
Congenital Deafness ◽  
Novel Mutations ◽  
Recessive Condition ◽  
Autosomal Recessive Condition ◽  
New Mutations

Labyrinthine aplasia, microtia, and microdontia (LAMM) is an autosomal recessive condition causing profound congenital deafness, complete absence of inner ear structures (usually Michel’s aplasia), microtia (usually type 1) and microdontia. To date, several families have been described with this condition and a number of mutations has been reported. We report on eight further cases of LAMM syndrome including three novel mutations, c. 173T>C p.L58P; c. 284G>A p.(Arg95Gln) and c.325_327delinsA p.(Glu109Thrfs*18). Congenital deafness was the primary presenting feature in all affected individuals and consanguinity in all but two families. We compare the features in our patients to those previously reported in LAMM, and describe a milder, asymmetrical phenotype associated with FGF3 mutations.

scholarly journals Siblings with Bardet Beidl Syndrome

2013 ◽  
Vol 33 (3) ◽  
pp. 236-238
Author(s):  
Ram Peter ◽  
Priya Jose ◽  
MNG Nair
Keyword(s):  
Clinical Features ◽  
Autosomal Recessive ◽  
Clinical Presentation ◽  
The Body ◽  
Bardet Biedl Syndrome ◽  
Recessive Condition ◽  
Autosomal Recessive Condition

Bardet Biedl syndrome is an autosomal recessive condition affecting many parts of the body. Incidence of BBS is 1 in 100000. Its clinical features varies in person to person though from same family too. We are reporting two siblings with Bardet Beidl syndrome with different clinical presentation. DOI: http://dx.doi.org/10.3126/jnps.v33i3.8081   J. Nepal Paediatr. Soc. 2013;33(3):236-238

scholarly journals Prevalence and cardiometabolic correlates of ketohexokinase gene variants among UK Biobank participants

PLoS ONE ◽  
2021 ◽  
Vol 16 (2) ◽  
pp. e0247683
Author(s):  
Joseph A. Johnston ◽  
David R. Nelson ◽  
Pallav Bhatnagar ◽  
Sarah E. Curtis ◽  
Yu Chen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Compound Heterozygous ◽  
Gene Variants ◽  
Uk Biobank ◽  
Loss Of Function ◽  
Recessive Condition ◽  
Clinical Consequences ◽  
Autosomal Recessive Condition ◽  
Clinically Significant ◽  
The Uk

Essential fructosuria (EF) is a benign, asymptomatic, autosomal recessive condition caused by loss-of-function variants in the ketohexokinase gene and characterized by intermittent appearance of fructose in the urine. Despite a basic understanding of the genetic and molecular basis of EF, relatively little is known about the long-term clinical consequences of ketohexokinase gene variants. We examined the frequency of ketohexokinase variants in the UK Biobank sample and compared the cardiometabolic profiles of groups of individuals with and without these variants alone or in combination. Study cohorts consisted of groups of participants defined based on the presence of one or more of the five ketohexokinase gene variants tested for in the Affymetrix assays used by the UK Biobank. The rs2304681:G>A (p.Val49Ile) variant was present on more than one-third (36.8%) of chromosomes; other variant alleles were rare (<1%). No participants with the compound heterozygous genotype present in subjects exhibiting the EF phenotype in the literature (Gly40Arg/Ala43Thr) were identified. The rs2304681:G>A (p.Val49Ile), rs41288797 (p.Val188Met), and rs114353144 (p.Val264Ile) variants were more common in white versus non-white participants. Otherwise, few statistically or clinically significant differences were observed after adjustment for multiple comparisons. These findings reinforce the current understanding of EF as a rare, benign, autosomal recessive condition.

scholarly journals Oculotrichodysplasia (OTD): a new probably autosomal recessive condition.

1988 ◽  
Vol 25 (6) ◽  
pp. 430-432 ◽  
Author(s):  
L Cecatto-De-Lima ◽  
M Pinheiro ◽  
N Freire-Maia
Keyword(s):  
Autosomal Recessive ◽  
Recessive Condition ◽  
Autosomal Recessive Condition

scholarly journals Papillon-Lefevre Syndrome: A Novel Familial Presentation

2010 ◽  
Vol 1 (3) ◽  
pp. 209-212
Author(s):  
S Sudhakar ◽  
Prabhat MPV ◽  
B Praveen Kumar
Keyword(s):  
Immune Cells ◽  
Early Onset ◽  
Polymorphonuclear Leukocytes ◽  
Autosomal Recessive ◽  
Functional Disability ◽  
The Body ◽  
Cathepsin C ◽  
Recessive Condition ◽  
Autosomal Recessive Condition ◽  
Rare Instance

ABSTRACT Papillon-Lefevre syndrome (PLS) is a condition characterized by dermatological manifestations and early onset periodontitis. The pathogenesis of PLS is secondary to mutation of the cathepsin C gene. Hence, the manifestations are expressed on the areas of the body covered by epithelium, such as palms, soles, knees and keratinized oral gingiva. Various immune cells, including polymorphonuclear leukocytes, macrophages, and their precursors are also affected leading to functional disability. PLS is an autosomal recessive condition and can occur in siblings born of consanguineous marriages. This report highlights a rare instance of two siblings of a family affected with Papillon-Lefevre syndrome.

scholarly journals Arterial Tortuosity Syndrome

2021 ◽  
Author(s):  
PRIYADARSHINI ARUNAKUMAR ◽  
Varun Marimuthu ◽  
Usha MK ◽  
Jayaranganath M
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Blood Vessels ◽  
Ventricular Hypertrophy ◽  
Autosomal Recessive ◽  
Left Ventricular ◽  
Arterial Tortuosity ◽  
Recessive Condition ◽  
Arterial Tortuosity Syndrome ◽  
Autosomal Recessive Condition ◽  
Asymptomatic Infant

A rare autosomal recessive condition, Arterial tortuosity syndrome (ATS) presents with ectactic blood vessels, cutaneous laxity, and bowel rupture. We report a case of an asymptomatic infant with arterial tortuosity syndrome who presented with left ventricular hypertrophy without any obvious obstruction to the outflow tract.

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