scholarly journals Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

2020 ◽  
Vol 7 (1) ◽  
Author(s):  
Rajendran Kadarkarai Raj ◽  
Pankaja Dhoble ◽  
Rupa Anjanamurthy ◽  
Prakash Chermakani ◽  
Manojkumar Kumaran ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
South Indian Population ◽  
Missense Mutations ◽  
Stargardt Disease ◽  
Fundus Imaging ◽  
South Indian ◽  
Base Pair Deletion ◽  
Single Base Pair ◽  
Larger Sample

Abstract Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and phosphatidylethanolamine. The purpose of this study is to identify the frequency of putative disease-causing mutations associated with Stargardt disease in a South Indian population. Methods A total of 28 clinically diagnosed Stargardt-like phenotype patients were recruited from south India. Ophthalmic examination of all patients was carefully carried out by a retina specialist based on the stages of fundus imaging and ERG grouping. Genetic analysis of ABCA4 was performed for all patients using Sanger sequencing and clinical exome sequencing. Results This study identified disease-causing mutations in ABCA4 in 75% (21/28) of patients, 7% (2/28) exhibited benign variants and 18% (5/28) were negative for the disease-causing mutation. Conclusion This is the first study describing the genetic association of ABCA4 disease-causing mutation in South Indian Stargardt 1 patients (STGD1). Our findings highlighted the presence of two novel missense mutations and an (in/del, single base pair deletion & splice variant) in ABCA4. However, genetic heterogeneity in ABCA4 mutants requires a larger sample size to establish a true correlation with clinical phenotype.

scholarly journals Demographic and Clinical Features of Left Atrial Tumors in South Indian Population: A Case Series

2019 ◽  
pp. 1-6
Author(s):  
H.S Natraj Setty ◽  
Raghavendra Murthy P. ◽  
Krishnamurthy B.N ◽  
Shivanand S Patil ◽  
Veeresh Patil ◽  
...  
Keyword(s):  
Left Atrial ◽  
Indian Population ◽  
Clinical Manifestations ◽  
Case Series ◽  
Anatomical Location ◽  
South Indian Population ◽  
Primary Cardiac Tumor ◽  
South Indian ◽  
Atrial Tumors

Myxomas are the most common type of primary cardiac tumor. They cause a variety of clinical manifestations depending on size and anatomical location. Sometimes, manifestations are atypical challenging differential diagnosis and the therapeutic approach. Left atrial myxomas are commonly missed clinically and often lead to grave consequences. We present here a series of 6 cases of left atrial myxomas with demographic and clinical characterization of the patients that were managed successfully.

Characterization of a single base-pair deletion in neurofibromatosis type 1

1993 ◽  
Vol 2 (10) ◽  
pp. 1709-1711 ◽  
Author(s):  
Seven D. Colman ◽  
Francis S. Collins ◽  
Margaret R. Wallace
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Base Pair ◽  
Neurofibromatosis Type ◽  
Single Base ◽  
Base Pair Deletion ◽  
Single Base Pair

Mutation Spectrum in Patients with Wiskott-Aldrich Syndrome and X-linked Thrombocytopenia: Identification of Twelve Different Mutations in the WASP Gene

1996 ◽  
Vol 75 (04) ◽  
pp. 546-550 ◽  
Author(s):  
Marianne Schwartz ◽  
Albert Békássy ◽  
Mikael Donnér ◽  
Thomas Hertel ◽  
Stefan Hreidarson ◽  
...  
Keyword(s):  
Base Pair ◽  
Hot Spot ◽  
Missense Mutations ◽  
Nucleotide Substitutions ◽  
Exon 2 ◽  
Wiskott Aldrich Syndrome ◽  
Base Pair Deletion ◽  
Reliable Diagnosis ◽  
Wasp Gene ◽  
Detection Of Mutations

SummaryTwelve different mutations in the WASP gene were found in twelve unrelated families with Wiskott-Aldrich syndrome (WAS) or X-linked thrombocytopenia (XLT). Four frameshift, one splice, one nonsense mutation, and one 18-base-pair deletion were detected in seven patients with WAS. Only missense mutations were found in five patients diagnosed as having XLT. One of the nucleotide substitutions in exon 2 (codon 86) results in an Arg to Cys replacement. Two other nucleotide substitutions in this codon, R86L and R86H, have been reported previously, both giving rise to typical WAS symptoms, indicating a mutational hot spot in this codon. The finding of mutations in the WASP gene in both WAS and XLT gives further evidence of these syndromes being allelic. The relatively small size of the WASP gene facilitates the detection of mutations and a reliable diagnosis of both carriers and affected fetuses in families with WAS or XLT.

TP53 codon 72 polymorphism and type 2 diabetes: a case–control study in South Indian population

2021 ◽  
Author(s):  
Harshitha K. Punja ◽  
Dechamma Pandyanda Nanjappa ◽  
Nishith Babu ◽  
Krithika Kalladka ◽  
B. Shanti Priya Dias ◽  
...  
Keyword(s):  
Indian Population ◽  
Case Control Study ◽  
Case Control ◽  
South Indian Population ◽  
Codon 72 ◽  
South Indian ◽  
Codon 72 Polymorphism ◽  
Tp53 Codon 72 Polymorphism ◽  
Control Study

scholarly journals Prevalence of the additional head of quadriceps femoris in the South Indian population: a cadaveric and radiological study

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Femina Sam ◽  
Madhavi Kandagaddala ◽  
Ivan James Prithishkumar ◽  
Koyeli Mary Mahata ◽  
Mahasampath Gowri ◽  
...  
Keyword(s):  
Indian Population ◽  
Vastus Lateralis ◽  
Femoral Nerve ◽  
Quadriceps Femoris ◽  
Lower Limbs ◽  
South Indian Population ◽  
The South ◽  
South Indian ◽  
Circumflex Femoral Artery ◽  
Vastus Intermedius

AbstractQuadriceps femoris is an extensor muscle in the anterior compartment of thigh and is traditionally taught to be composed of four heads. Recently, there is an increased interest in the occurrence of an additional muscle head of quadriceps femoris. But scientific knowledge regarding its incidence is lacking in the South Indian population. This study was done to confirm the presence of the additional head by routine anatomic dissection and radiological imaging techniques. Forty-one formalin fixed human cadaveric lower limbs were dissected and the morphology of the additional head was noted. Retrospective analysis of 88 MRI images of patients was done. The additional muscle head was present in 43.9% of the cadaveric lower limbs and was consistently located between the vastus lateralis and vastus intermedius. It originated from variable portions of the greater trochanter, intertrochanteric line, lateral lip of linea aspera and lateral surface of the shaft of femur and inserted either as a muscle belly or as an aponeurosis into the vastus intermedius (55.6%), vastus lateralis (22.2%) or directly into the base of the patella. It received its vascular supply from branches of the lateral circumflex femoral artery and was innervated by branches from the posterior division of the femoral nerve. In addition, the additional muscle head was identified by MRI and its incidence was reported to be 30.68% for the first time in living subjects. The result of this study provides additional information in understanding the morphology of the quadriceps femoris muscle.

Morphological study of lingula of the mandibles in South Indian population

Morphologie ◽  
2012 ◽  
Vol 96 (312) ◽  
pp. 16-20 ◽  
Author(s):  
B.V. Murlimanju ◽  
L.V. Prabhu ◽  
M.M. Pai ◽  
M.T. Paul ◽  
V.V. Saralaya ◽  
...  
Keyword(s):  
Morphological Study ◽  
Indian Population ◽  
South Indian Population ◽  
South Indian

scholarly journals A Comparison of Craniofacial Characteristics between Two Different Adult Populations with Class II Malocclusion—A Cross-Sectional Retrospective Study

Biology ◽  
2021 ◽  
Vol 10 (5) ◽  
pp. 438
Author(s):  
Arvind Sivakumar ◽  
Prasad Nalabothu ◽  
Huyen Nguyen Thanh ◽  
Gregory S. Antonarakis
Keyword(s):  
Growth Pattern ◽  
Class Ii ◽  
Class Ii Malocclusion ◽  
South Indian Population ◽  
The South ◽  
Facial Height ◽  
South Indian ◽  
Mandibular Plane ◽  
Lateral Cephalograms ◽  
Craniofacial Characteristics

The dental, skeletal, and soft-tissue characteristics of a particular malocclusion can differ based on ethnicity, race, age, sex and geographical location with Class II malocclusion being one of the most prevalent malocclusions encountered in orthodontic clinical practice. The broad understanding of the characteristics of vertical skeletal and dental parameters in patients with Class II malocclusion can help clinicians to identify patterns and variations in the expression of this phenotype for better treatment outcomes. Hence, we compared the craniofacial characteristics of skeletal and dental Class II malocclusion traits from Indian and Vietnamese individuals to analyze the vertical skeletal and dental patterns in both population groups. The sample comprised of lateral cephalograms from 100 young adults with Class II malocclusion, of which fifty (25 males and 25 females) were from South India and the other 50 age- and sex-matched adults from Vietnam. The lateral cephalometric radiographs were digitized into anonymous image files and were traced and assessed for 16 vertical skeletal and dental parameters. The ANB angle was greater in males (+1.4 deg; p < 0.001) and females (+1.9 deg; p < 0.001) in the South Indian population. The Vietnamese males had a larger mandibular plane angle, articular angle, anterior facial height and lower anterior facial height compared to the Indian males. The Vietnamese females had larger mandibular plane and articular angles compared to the Indian females. The skeletal class II malocclusion was more severe in the South Indian compared to the Vietnamese adults. The Vietnamese sample showed a generalized tendency towards a more vertical skeletal growth pattern and in males this pattern seemed to be due to the dentoalveolar component. The Vietnamese females showed a tendency towards a vertical growth pattern, but without apparent contribution by the dentoalveolar component.

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