scholarly journals Gitelman syndrome caused by a novel hemiallelic missense mutation in SLC12A3 revealed by 16q12.2q21 microdeletion

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Yuki Abe ◽  
Toshiyuki Yamamoto ◽  
Yukie Izumita ◽  
Shinya Tsukano
Keyword(s):  
Missense Mutation ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
De Novo ◽  
Missense Variant ◽  
Gitelman Syndrome ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Biallelic Mutations

AbstractGitelman syndrome (GS) is caused by biallelic mutations in SLC12A3 as an autosomal recessive trait. A patient with a de novo 16q12.2q21 microdeletion showed clinical features of GS. SLC12A3 included in the deletion was analyzed, and a rare missense variant (c.1222A>C [p.N406H]) was identified as hemizygous. Consequently, GS was caused by the revealed SLC12A3 variant owing to chromosomal microdeletion.

Dwarfism in Tibetan Terrier dogs with an LHX3 mutation

2021 ◽  
pp. 104063872110075
Author(s):  
Tuddow Thaiwong ◽  
Sarah Corner ◽  
Stacey La Forge ◽  
Matti Kiupel
Keyword(s):  
Hair Loss ◽  
Autosomal Recessive ◽  
Early Death ◽  
Deletion Mutation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
German Shepherd ◽  
Hair Coat ◽  
Pituitary Dwarfism ◽  
Autosomal Recessive Manner

Canine pituitary dwarfism in German Shepherd and related dog breeds has been reported to be associated with a 7-bp deletion mutation in intron 5 of the LHX3 gene. This mutation is transmitted as an autosomal recessive trait that results in dwarf dogs with significantly smaller stature and abnormal haircoat, and potentially early death. Phenotypically, affected adult dogs are proportionally dwarfs. These dwarfs also have a soft, woolly puppy coat that fails to transition into the typical adult hair coat, and marked hair loss occurs in some dogs. We report a similar manifestation of dwarfism in Tibetan Terriers with the same LHX3 mutation. Dwarf Tibetan Terrier puppies were born physically normal but failed to gain weight or to grow at the same rate as their normal littermates. The 7-bp deletion mutation of the LHX3 gene was identified in both alleles of 3 Tibetan Terrier dwarfs from 3 litters, which were biologically related. All parents of these dogs are carriers, confirming transmission of dwarfism in an autosomal recessive manner. Recognition and detection of this mutation will help in guiding future breeding plans to eventually eliminate this trait from Tibetan Terriers.

Trimethylaminuria (‘fish-odour syndrome’): A study of an affected family

1988 ◽  
Vol 74 (3) ◽  
pp. 231-236 ◽  
Author(s):  
Makram Al-Waiz ◽  
Riad Ayesh ◽  
Stephen C. Mitchell ◽  
Jeffrey R. Idle ◽  
Robert L. Smith
Keyword(s):  
Oral Administration ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Oral Challenge ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Challenge Dose ◽  
The Third ◽  
The Family ◽  
Body Odour

1. Beginning with a single propositus, who had been previously diagnosed at the age of 10 as suffering from trimethylaminuria (fish-odour syndrome), both her parents and two sisters were investigated biochemically with respect to their ability to N-oxidize trimethylamine (TMA), both when derived from the diet and when administered exogenously. 2. Both the propositus and a second sister were markedly deficient in their ability to N-oxidize TMA, both when derived from the diet and when given as such; furthermore, both siblings readily developed the symptoms of fish-odour syndrome as characterized by a strong objectionable breath and body odour shortly after the oral administration of TMA (300 mg). 3. At this dose level of TMA, neither of the parents nor the third sister showed any evidence of impaired N-oxidation ability nor did they experience any ‘fish-odour’ symptoms. 4. With an oral challenge of 600 mg of TMA, both the parents showed a clear impairment of N-oxidation capacity which was not seen in six healthy unrelated volunteers. Both parents experienced a fish-odour syndrome at this level of TMA challenge. 5. The family data support the hypothesis that trimethylaminuria is an inborn error in the ability to N-oxidize TMA which is inherited as an autosomal recessive trait. Furthermore, experience with this family suggests that an oral challenge dose with 600 mg of TMA may be used to identify carriers of the condition.

scholarly journals Hereditary C2 deficiency: Genetic studies and association with the HL-A system.

1975 ◽  
Vol 141 (6) ◽  
pp. 1464-1469 ◽  
Author(s):  
N K Day ◽  
R L'Esperance ◽  
R A Good ◽  
A F Michael ◽  
J A Hansen ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Genetic Factors ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Systemic Lupus ◽  
Genetic Studies ◽  
Large Pedigree ◽  
Deficient Patient ◽  
Heterozygous Carriers ◽  
C2 Deficiency

Herediatary C2-deficiency has been shown to be transmitted asn an autosomal recessive characteristic. Recent evidence indicates that some genetic factors involved in the control of the complement (C) system in both man and mice are governed by genes localized within the major histocompatibility regionmthis study describes a large pedigree of the paternal family of a C2-deficient patient with systemic lupus erythematosusl It is shown that this condition is transmitted as an autosomal recessive trait, the heterozygous carriers having approximately half normal levels of C2. Furthermore, this trait was shown to be inherited in close linkage with an infrequent HL-A typw, 2,4A2. The maternal, C2-defective chromosome was shown to be transmitted by HL-AW10, W18 haplotypemthis same haplotype was described in a similar study by Fu et al. (6) to be associated with C2 deficiencymfinally, a third haplotype HL-A2,W18 carrying a defective C2 gene was demonstrated in a part of this pedigree.

scholarly journals Case Report: Expanding the Genetic and Phenotypic Spectrum of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

2020 ◽  
Vol 11 ◽  
Author(s):  
Parham Habibzadeh ◽  
Zahra Tabatabaei ◽  
Soroor Inaloo ◽  
Muhammad Mahdi Nashatizadeh ◽  
Matthis Synofzik ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Features ◽  
Autosomal Recessive ◽  
Neurodegenerative Disorder ◽  
Deletion Mutation ◽  
Sensorimotor Neuropathy ◽  
Spastic Ataxia ◽  
Phenotypic Spectrum ◽  
Iranian Family ◽  
Biallelic Mutations

Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare neurodegenerative disorder caused by biallelic mutations in the SACS gene. Once thought to be limited to Charlevoix–Saguenay region of Quebec, recent evidence has indicated that this disorder is present worldwide. It is classically characterized by the triad of ataxia, pyramidal involvement, and axonal-demyelinating sensorimotor neuropathy. However, diverse clinical features have been reported to be associated with this disorder. In this report, we present the first Iranian family affected by ARSACS with unique clinical features (mirror movements, hypokinesia/bradykinesia, and rigidity) harboring a novel deletion mutation in the SACS gene. Our findings expand the genetic and phenotypic spectrum of this disorder.

Anhidrotic ectodermal dysplasia as autosomal recessive trait in an inbred kindred

1966 ◽  
Vol 3 (2) ◽  
pp. 181-185 ◽  
Author(s):  
Eberhard Passarge ◽  
C. Thomas Nuzum ◽  
William K. Schubert
Keyword(s):  
Autosomal Recessive ◽  
Ectodermal Dysplasia ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Anhidrotic Ectodermal Dysplasia

Pedal polydactyly. A case report

1989 ◽  
Vol 79 (9) ◽  
pp. 454-458 ◽  
Author(s):  
AL Sonoga ◽  
GG Guttmann
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Surgical Intervention ◽  
Dominant Gene ◽  
Occurrence Rate ◽  
Radiographic Evaluation ◽  
Recessive Trait ◽  
Autosomal Recessive Trait ◽  
Foot Function

Polydactyly is a common pedal deformity with great variation in clinical presentation. There is a tendency toward a higher incidence in previously affected families, but the actual occurrence rate of the different forms of polydactyly has not been agreed upon in the literature to date. Most authors agree that the isolated deformity is an expression of an autosomal dominant gene with varied penetrance. Syndromatically associated polydactyly is inherited as an autosomal recessive trait. Surgical intervention should be attempted as early as possible. Correction should be undertaken only after a thorough clinical and radiographic evaluation has been performed. The patient's postoperative goals should always be considered. It is not necessary to remove the supernumerary digit if it does not interfere with the foot's function and comfort. Cosmesis should not be the chief consideration. The surgeon should strive to return the foot to a more normal contour while maintaining or improving foot function.

S-mephenytoin 4-hydroxylase is inherited as an autosomal-recessive trait in Japanese families

1987 ◽  
Vol 42 (1) ◽  
pp. 96-99 ◽  
Author(s):  
S A Ward ◽  
F Goto ◽  
K Nakamura ◽  
E Jacqz ◽  
G R Wilkinson ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Recessive Trait ◽  
Autosomal Recessive Trait
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