Paternal isodisomy of chromosome 3 unmasked by autosomal recessive microcoria-congenital nephrosis syndrome (Pierson syndrome) in a child with no other phenotypic abnormalities

2011 ◽  
Vol 155 (10) ◽  
pp. 2601-2604 ◽  
Author(s):  
Verena Matejas ◽  
Jutta Muscheites ◽  
Marianne Wigger ◽  
Hans-Jürgen Kreutzer ◽  
Horst Nizze ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Chromosome 3 ◽  
Pierson Syndrome ◽  
Congenital Nephrosis

Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: An autosomal recessive syndrome

2004 ◽  
Vol 130A (2) ◽  
pp. 138-145 ◽  
Author(s):  
Martin Zenker ◽  
Tim Tralau ◽  
Thomas Lennert ◽  
Susanne Pitz ◽  
Karlheinz Mark ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Nephrosis

THE GENETICS OF BLACK LARVA, AN AUTOSOMAL RECESSIVE LETHAL MUTATION LOCATED ON CHROMOSOME 3 IN THE MOSQUITO ANOPHELES ALBIMANUS

1976 ◽  
Vol 18 (1) ◽  
pp. 51-56 ◽  
Author(s):  
M. G. Rabbani ◽  
J. A. Seawright ◽  
J. B. Kitzmiller
Keyword(s):  
Autosomal Recessive ◽  
Larval Instar ◽  
Lethal Mutation ◽  
Chromosome 3 ◽  
Anopheles Albimanus ◽  
Dominant Marker ◽  
Recessive Lethal ◽  
Recessive Lethal Mutation

A spontaneous autosomal recessive lethal mutation, black larva (bl), producing black pigmented larvae that die during the 4th larval instar has been discovered in the mosquito Anopheles albimanus Wiedemann. Genetic investigations using two Y-autosome translocations and a 3rd chromosome dominant marker, St, indicate that bl is located on chromosome 3 at a distance of 15 map units from St.

scholarly journals Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1164
Author(s):  
Julia Kopp ◽  
Cristina Has ◽  
Alrun Hotz ◽  
Sarah C. Grünert ◽  
Judith Fischer
Keyword(s):  
Autosomal Recessive ◽  
De Novo ◽  
Uniparental Disomy ◽  
Rare Event ◽  
De Novo Mutation ◽  
Chromosome 3 ◽  
Lipid Storage Disease ◽  
First Case ◽  
Neutral Lipid Storage Disease ◽  
Biallelic Mutations

Autosomal recessive Chanarin-Dorfman syndrome (CDS, MIM #275630) is defined as a neutral lipid storage disease with ichthyosis (NLSDI) due to an accumulation of lipid droplets in a variety of different tissues including liver and muscle cells, leucocytes, fibroblasts and nerve cells It is caused by biallelic mutations in the abhydrolase domain containing 5 gene (ABHD5, MIM *604780) which is localized on the short arm of chromosome 3. Here we report an 18 month-old girl in whom we have identified the homozygous ABHD5 mutation c.700C > T, p.(Arg234*). Since none of the parents carried this point mutation, parentage was confirmed by microsatellite marker analysis. Suspected uniparental disomy (UPD) was confirmed by microsatellite genotyping over the entire chromosome 3 and indicated a maternal origin. UPD is an extremely rare event that is not necessarily pathogenic, but may cause disease if the affected chromosome contains genes that are imprinted. Here we report the first case of Chanarin-Dorfman syndrome due to a de novo ABHD5 mutation in the maternal germ cell, combined with a maternal uniparental isodisomy of chromosome 3. This case demonstrates that genetic analysis of the patient and both parents is crucial to provide correct genetic counseling.

Mapping of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) to chicken chromosome 3

2001 ◽  
Vol 32 (1) ◽  
pp. 50-50
Author(s):  
S. F. Ge ◽  
M. N. Romanov ◽  
P. J. Sharp ◽  
D. W. Burt ◽  
I. R. Paton ◽  
...  
Keyword(s):  
Luteinizing Hormone ◽  
Receptor Gene ◽  
Chromosome 3 ◽  
Chicken Chromosome

Can progression of autosomal dominant or autosomal recessive polycystic kidney disease be prevented?

2001 ◽  
Vol 21 (5) ◽  
pp. 430-440 ◽  
Author(s):  
Ira D. Davis ◽  
Katherine MacRae Dell ◽  
William E. Sweeney ◽  
Ellis D. Avner
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Polycystic Kidney

Homozygous Splice Mutation in CWF19L1 in Two Brothers with Autosomal Recessive Cerebellar Ataxia

2017 ◽  
Vol 48 (S 01) ◽  
pp. S1-S45
Author(s):  
A. Enderli ◽  
B. Heinrich ◽  
P. Joset ◽  
J. De Geyter ◽  
J. Scheer ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
Autosomal Recessive Cerebellar Ataxia

Three Cases of Joubert Syndrome in a Consanguineous Syrian Family and a Interesting Case of Multinational Collaboration

2021 ◽  
Author(s):  
Davor Petrović ◽  
Vida Čulić ◽  
Zofia Swinderek-Alsayed
Keyword(s):  
Low Income ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Joubert Syndrome ◽  
Interesting Case ◽  
Low Income Countries ◽  
Ocular Motor ◽  
Quality Health Care ◽  
Quality Health ◽  
Motor Apraxia

AbstractJoubert syndrome (JS) is a rare congenital, autosomal recessive disorder characterized by a distinctive brain malformation, developmental delay, ocular motor apraxia, breathing abnormalities, and high clinical and genetic heterogeneity. We are reporting three siblings with JS from consanguineous parents in Syria. Two of them had the same homozygous c.2172delA (p.Trp725Glyfs*) AHI1 mutation and the third was diagnosed prenatally with magnetic resonance imaging. This pathogenic variant is very rare and described in only a few cases in the literature. Multinational collaboration could be of benefit for the patients from undeveloped, low-income countries that have a low-quality health care system, especially for the diagnosis of rare diseases.

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